Industry Partner News: Solid Biosciences Shares Letter to the Duchenne Community regarding IGNITE DMD Status and New Clinical Sites

Dear Duchenne Community,

We want to provide you with an update on the progress of our IGNITE DMD Phase I/II clinical trial for our investigational microdystrophin gene transfer, SGT-001. Since we communicated preliminary clinical data in February, we advanced the study to evaluate SGT-001 at a higher dose in the second cohort of patients. As a reminder, IGNITE DMD is a single ascending dose clinical trial, meaning that it is designed to evaluate progressively higher doses of SGT-001. Based on our preclinical data, we believe that higher doses of SGT-001 will express more microdystrophin. This new dose, 2E14 vg/kg, is four times higher than our starting dose of 5E13 vg/kg.

Recently, the first two patients in this higher dose cohort were enrolled, one randomized to the treatment group and one randomized to the delayed-treatment control group. Similar to others who have received SGT-001, the patient in the treatment arm experienced a transient decline in platelet count shortly after dosing, which fully resolved. He was also diagnosed with a non-SGT-001-related gastrointestinal infection, which responded to treatment. We observed transient abnormalities on laboratory tests that measure liver function that quickly responded to an increased dose of oral steroids. We notified the FDA and can share with you that the patient is doing well and has resumed his normal activities.

IGNITE DMD is ongoing and continues to be open for enrollment at the University of Florida. We are pleased to share new U.S. clinical sites will be coming on board, including the University of Massachusetts Memorial Medical Center, led by Dr. Brenda Wong. Activities are underway to begin enrollment. For information on inclusion and exclusion criteria for IGNITE DMD and additional details on screening, we encourage you to visit

We believe that SGT-001 has the potential to be an important therapy for patients with Duchenne, and we are working hard to progress SGT-001 through clinical development quickly and responsibly. We look forward to continuing to keep you updated as the study advances.


The Solid Biosciences Team

Industry Partner News: Wave Life Sciences Shares Suvodirsen Phase 1 Trial Results and Letter to the Duchenne Community

Wave Life Sciences.png

April 16, 2019

Dear Duchenne community:

We are excited to share that on April 16th, 2019, we shared safety and tolerability data from our Phase 1 clinical trial evaluating investigational suvodirsen (WVE-210201) in boys with Duchenne muscular dystrophy. The results from this trial support progressing to a Phase 2/3 clinical trial, which we intend to initiate in July 2019, so we wanted to review what comes next.

The Phase 1 clinical trial was a placebo-controlled, single ascending dose study to evaluate safety, tolerability and pharmacokinetics of suvodirsen. Thirty-six boys with Duchenne muscular dystrophy amenable to exon 51-skipping therapy were given a single infusion of suvodirsen or placebo and followed by their clinical teams for 85 days. The results of the study demonstrated that a single infusion of suvodirsen was generally safe and well- tolerated at doses up to and including 5 mg/kg and support initiation of a Phase 2/3 trial to evaluate efficacy and safety.

The Phase 2/3 clinical trial, called DYSTANCE 51, is a global, multi-center, placebo- controlled study designed to evaluate the efficacy and safety of suvodirsen in boys with Duchenne muscular dystrophy amenable to exon 51 skipping. The trial design has been accepted into the FDA’s Complex Innovative Trial Design (CID) Pilot Program. Through the CID pilot program, our goal is to reduce the number of patients required for the study, thereby minimizing the number of patients required in the placebo treatment arm and potentially accelerating completion of the trial. For more information on this study please contact us at or visit here ( Identifier: NCT03907072).

Our deepest thanks go to all the courageous boys who participated in the Phase 1 study and the families that support them. In addition, we are ever grateful to all of those in the Duchenne community, including the families, advocacy partners, regulators, and clinicians who have provided invaluable guidance on this program from the very beginning.


Michael Panzara, MD, MPH Chief Medical Officer

Questions and Answers

What’s next for the suvodirsen clinical program? Suvodirsen is currently being evaluated in an ongoing multi-dose open-label extension (OLE) study with boys from the Phase 1 clinical trial. We are also planning to initiate a global Phase 2/3 efficacy and safety trial, called DYSTANCE 51. DYSTANCE 51 is a multicenter, randomized, double-blind, placebo-controlled clinical trial that will enroll ambulatory boys 5 – 12 years of age with Duchenne muscular dystrophy amenable to exon 51 skipping.

What is suvodirsen? Suvodirsen (formerly known as WVE-210201) is an investigational exon 51 skipping stereopure antisense oligonucleotide. Exon skipping is an approach that may restore the DMD mRNA reading frame in people with amenable mutations, resulting in restoration of dystrophin protein. Suvodirsen was developed using PRISMTM, our proprietary discovery and drug development platform. Suvodirsen has been granted orphan drug designation for the treatment of DMD by the U.S. Food and Drug Administration (FDA) and the European Commission, as well as rare pediatric disease designation by the FDA.

What is the status of Wave’s other exon skipping research? We are advancing a lead candidate for exon 53 are we are actively pursuing research programs designed to skip exons 44, 45, 52, 54 and 55.

Industry Partner News: Audentes Therapeutics Announced the Beginning Development of New AAV-based Genetic Medicines for DMD

Dear Duchenne Muscular Dystrophy Patient Community,

Today Audentes Therapeutics announced that it is expanding its scientific platform and beginning development of new AAV-based genetic medicines for Duchenne muscular dystrophy (DMD). You can find the press release on our website under “investors/press releases” or directly at this link: https://audentestx.gcs-

We are excited to share the news of our development programs with you and wanted to reach out to introduce ourselves and provide you information we hope you find helpful.

The Patient Advocacy and Engagement department is part of the Development team at Audentes. This means that we are in the same part of the organization as other functions such as Medical Affairs and Clinical Development. The Head of the Patient Advocacy and Engagement department is Kimberly Trant, and Chelsea Karbocus is a Senior Manager on the team. We have responsibility globally for patient-related advocacy and engagement activities. Our department is under the executive leadership of our Chief Medical Officer, Dr. Suyash Prasad, who is a pediatrician by background.

Who is Audentes Therapeutics?

• Audentes is a leading AAV-based (adeno-associated virus) genetic medicines company based in San Francisco, California

• Our focus is developing genetic medicines for serious, rare, neuromuscular conditions

• We have our own in-house cGMP (current Good Manufacturing Practice) manufacturing facility

• We aim to run robustly designed clinical trials efficiently so that we can achieve our mission of bringing innovative genetic medicines to patients living with serious, rare conditions as rapidly as possible

What experience does Audentes have in genetic medicine for rare neuromuscular conditions?

• Audentes began its first-in-human trial for X-linked myotubular myopathy (XLMTM) in late 2017

• This clinical trial uses a systemically delivered AAV vector to replace the MTM1 gene, which is responsible for producing myotubularin

• This clinical trial is still ongoing, and Audentes plans its next data update at the ASGCT conference in early May of 2019

What approach is Audentes planning to use for development in DMD?

• Audentes is collaborating with Nationwide Children’s Hospital to pursue an approach called “vectorized exon skipping,” which uses an AAV vector to deliver a genetic sequence designed to cause cells to “skip over” or ‘read-through’ faulty sections (or exons) within the genetic code. This is known as anti-sense technology

• This approach combines the proven delivery power of AAV to penetrate affected tissues with exon- skipping technology that regulates how a protein is produced

• The AAV approach is one which Audentes Therapeutics has expertise in, both in terms of clinical development and in manufacturing capability

• The exon skipping approach has precedence in DMD

• This approach aims to cause a production of a more complete, functional dystrophin protein which we believe will translate into clinical benefit

How does Audentes view the role of the patient community?

• Integration of the patient and family perspective is at the core of our work at Audentes

• We see the patient community as our partners, collaborators, and teachers

• We believe that patient perspectives should be integrated throughout the drug development process, from initiation of a clinical program to its completion and beyond

What is the goal of Patient Advocacy and Engagement at Audentes? Our goal is to deliver meaningful gene therapy clinical development programs, educational materials, and resources to support the rare disease community.

• Our priority is to weave the patient perspective into the fabric of our work and daily activities at Audentes

• We are here to advocate for you with our colleagues at Audentes

• To “advocate” is to support a cause or proposal. However, we believe that truly advocating for families requires much more than support. It requires commitment, dedication, and passion to ensure we are continually doing what is right for patients

We are honored to work with the Duchenne muscular dystrophy patient community and look forward to championing your perspective with our teams at Audentes. As we begin discussions with the patient community, we will be listening for and learning about the types of information and resources we can provide that are most meaningful and relevant to your needs.

For more information or to contact us:

• Please visit our website at

• Send us an email at:


Kimberly Trant, RN, MBA, Head of Patient Advocacy & Engagement
Suyash Prasad MD, Pediatrician, Senior Vice President and Chief Medical Officer

Industry Partner News: Santhera Provides Update on Filing for Conditional Marketing Authorization in Europe for Puldysa® (Idebenone) in Duchenne Muscular Dystrophy


Pratteln, Switzerland, March 28, 2019 - Santhera Pharmaceuticals (SIX: SANN) announces its intention to file an application for Conditional Marketing Authorization (CMA) for Puldysa® (idebenone) for the treatment of respiratory dysfunction in Duchenne muscular dystrophy (DMD) with the European Medicines Agency (EMA). Following scientific advice from EU regulatory authorities, completion and filing of the CMA for Puldysa in DMD is planned for the second quarter of 2019.

Santhera has expanded and substantiated its previous regulatory dossier with additional clinical data from patients treated with idebenone, new analyses of previously submitted data and new comprehensive natural history data, addressing requests from regulatory authorities. In its entirety, these new data demonstrate clinically relevant patient benefits and sustained therapeutic efficacy during treatment with idebenone for up to six years in patients with DMD. The new data package and filing strategy have been discussed in several pre-submission meetings with national regulatory authorities. 

The initial indication intended for Puldysa is to treat respiratory dysfunction in patients with DMD who are not using glucocorticoids. The filing will be based on data from Santhera's Phase II (DELPHI) study, the long-term DELPHI-Extension study, the pivotal Phase III (DELOS) study [1-5] and the recently completed SYROS study, a collection of long-term data from patients who completed the DELOS study and continued to be treated with idebenone for up to six years [6].

Key data included in the forthcoming filing:

  • Clinical trial data demonstrate therapeutic potential for idebenone in the treatment of respiratory dysfunction in patients with DMD. Pivotal data from the Phase III (DELOS) study, which met its primary endpoint, demonstrated clinically relevant treatment effects of idebenone compared to placebo on respiratory function outcomes [1-5]. Supportive evidence comes from the Phase II (DELPHI) study and its two-year open label extension study (DELPHI-E).

  • Idebenone has the potential to delay the time to clinically relevant milestones of disease progression. Peak expiratory flow as percent predicted (PEF%p) is a sensitive and early marker of respiratory function decline in DMD. Analysis of natural history data showed that the treatment benefit observed with idebenone in the DELOS study on PEF%p could, when extrapolated, result in a delay in the initiation of assisted ventilation by three years with continued treatment, which is of high clinical relevance.

  • The beneficial treatment effects of idebenone are sustained year on year for up to six years. The annualized decline in forced vital capacity percent predicted (FVC%p) and PEF%p remained consistently lower for a period of up to six years compared to data from a matched group of untreated patients enrolled in the CINRG natural history study. This long-term data from the SYROS study further support the potential for idebenone to modify the course of respiratory function decline and delay the time to clinically relevant milestones.

  • Idebenone has been shown to support preservation of respiratory function. Treatment with idebenone also reduced the risk of important patient-relevant outcomes, including bronchopulmonary adverse events and hospitalizations due to respiratory causes as demonstrated in the pivotal study (DELOS) and maintained in the long-term data collection (SYROS).

"Our team has worked hard to assemble new data which substantially strengthen our regulatory dossier for Puldysa as a potential treatment for DMD," said Kristina Sjöblom Nygren, MD, Chief Medical Officer and Head of Development at Santhera. "The continued dialogue with regulators and clinical experts in DMD has provided the necessary guidance which enabled us to close earlier data gaps by bridging clinical trial results to tangible and highly relevant patient benefits."

"The choice for a conditional marketing authorization pathway was acknowledged by regulators and we are in final preparations to submit the filing dossier," added Thomas Meier, PhD, Chief Executive Officer of Santhera. "The regulatory path of a conditional marketing authorization requires us to submit a full dossier with a new tradename, Puldysa®, to distinguish this product from Raxone® which was previously approved as treatment for patients with Leber's hereditary optic neuropathy."

The European Medicines Agency (EMA) may grant a conditional marketing authorization for a new treatment to address unmet medical needs for patients. Medicines are eligible for conditional approval if they are aimed at treating seriously debilitating or life-threatening diseases. This includes orphan medicines. The available data must indicate that the medicine's benefits outweigh its risks and the applicant should have a development plan in place to provide additional clinical data.

Idebenone has been granted orphan drug designation for the treatment of DMD by European, US, Swiss and Australian authorities. 


[1] Buyse et al. (2015), The Lancet 385:1748-1757

[2] McDonald et al. (2016), Neuromuscular Disorders 26:473-480

[3] Buyse et al. (2017), Pediatric Pulmonology 52:580-515

[4] Mayer et al. (2017), Journal of Neuromuscular Diseases 4:189-198

[5] Buyse et al. (2018), Journal of Neuromuscular Diseases 5: 419-430

[6] To be presented at the 2019 MDA Clinical & Scientific Conference (April 13-17, 2019, in Orlando)


About Duchenne Muscular Dystrophy

DMD is one of the most common and devastating types of progressive muscle weakness and degeneration starting at an early age and leading to early morbidity and mortality due to respiratory failure. It is a genetic, degenerative disease that occurs almost exclusively in males with an incidence of up to 1 in 3,500 live male births worldwide. DMD is characterized by a loss of the protein dystrophin, leading to cell damage, impaired calcium homeostasis, elevated oxidative stress and reduced energy production in muscle cells. With age, progressive respiratory muscle weakness affecting thoracic accessory muscles and the diaphragm causes respiratory disease, impaired clearance of airway secretions, recurrent pulmonary infections due to ineffective cough, and eventually respiratory failure. There is currently no treatment approved for slowing loss of respiratory function in patients with DMD.

About Idebenone in Duchenne Muscular Dystrophy

Idebenone is a synthetic short-chain benzoquinone and a cofactor for the enzyme NAD(P)H:quinone oxidoreductase (NQO1) capable of stimulating mitochondrial electron transport, reducing and scavenging reactive oxygen species (ROS) and supplementing cellular energy levels.

DELOS was a Phase III, double-blind, placebo-controlled 52-week study which randomized 64 patients, not taking concomitant steroids, to receive either idebenone (900 mg/day) or matching placebo. The study met its primary endpoint, the change from baseline in peak expiratory flow (PEF) expressed as percent of predicted, which demonstrated that idebenone can slow the loss of respiratory function. Supportive data for idebenone were shown in the Phase II double-blind, placebo-controlled DELPHI study and its 2-year open-label extension study (DELPHI-E).

SYROS was a prospectively planned, retrospective collection of long-term respiratory function data from 18 patients who completed the DELOS study and subsequently received idebenone (900 mg/day) under Expanded Access Programs (EAPs). The SYROS study showed that the previously observed beneficial effect of idebenone in reducing the rate of respiratory function decline was maintained for up to six years during treatment.

About Santhera

Santhera Pharmaceuticals (SIX: SANN) is a Swiss specialty pharmaceutical company focused on the development and commercialization of innovative medicines for rare and other diseases with high unmet medical needs. The portfolio comprises clinical stage and marketed treatments for neuro-ophthalmologic, neuromuscular and pulmonary diseases. Santhera's Raxone® (idebenone) is authorized in the European Union, Norway, Iceland, Liechtenstein, Israel and Serbia for the treatment of Leber's hereditary optic neuropathy (LHON) and is currently commercialized in more than 20 countries.

For further information and to contact Santhera, please visit

Industry Partner News: Sarepta Therapeutics Announces Positive Expression Results from the Casimersen (SRP-4045) Arm of the ESSENCE Study


-- Interim analysisfound statistically significant increase in dystrophin production as measured by western blot in casimersen-treated participants compared to baseline and placebo --

-- Based on positive results, Company intends to schedule a pre-NDA meeting with FDA and plans to submit an NDA for casimersen in the middle of 2019 --

-- Results once again validate the Company’s exon-skipping platform for the treatment of DMD --

CAMBRIDGE, Mass., March 28, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced results from its interimanalysis of muscle biopsy endpoints comparing casimersen treatment to placebo in the ESSENCE study, also known as study 4045-301. ESSENCE is a global, randomized double-blind, placebo-controlled Phase 3 study evaluating the efficacy and safety of casimersen and golodirsen in patients amenable to skipping exons 45 or 53, respectively.

After soliciting feedback from the FDA, Sarepta conducted an interim analysis for levels of dystrophin protein expression in those patients who are amenable to exon 45 skipping to determine the potential for a New Drug Application (NDA) filing based on dystrophin as a surrogate endpoint. With these results, the Company intends to work toward submission of an NDA for casimersen in the middle of 2019.

Patients amenable to exon 45 skipping were randomized to receive a once-weekly intravenous (IV) infusion of casimersen dosed at 30mg/kg (N=27) or placebo (N=16) for 96 weeks. The interim analysis was performed on data from biopsies of the bicep muscle at baseline and on-treatment at Week 48.

Key findings from the interim analysis include:

- In the casimersen arm, mean dystrophin protein (% normal dystrophin as measured by western

blot) increased to 1.736% of normal compared to a mean baseline of 0.925% of normal (p<0.001).

- A statistically significant difference in the mean change from baseline to week 48 in dystrophin

protein was observed between the casimersen-treated arm compared to the placebo arm


- Of the 22 patients receiving casimersen who have been tested for increased exon-skipping mRNA

using reverse transcription polymerase chain reaction (RT-PCR), all have displayed an increase in

skipping exon 45 (p<0.001) over their baseline levels, representing a 100% response rate.

- A statistically significant positive correlation between exon 45 skipping and dystrophin production

was observed (Spearman rank correlation = 0.635, p<0.001).

- The study is ongoing and remains blinded to collect additional efficacy and safety data.

“We are pleased to see that the anticipated exon skipping after treatment resulted in a statistically significant mean increase of dystrophin protein, as measured by western blot,” said Professor Francesco Muntoni, University College London. “This is the third exon-skipping agent to have shown a statistically significant increase in dystrophin production, and reinforces our confidence in the exon-skipping approach for treating Duchenne patients with amenable mutations.”

“The casimersen results and submission of our application for golodirsen earlier this year further validate our RNA research engine,” said Doug Ingram, Sarepta Therapeutics’ president and chief executive officer. “If golodirsen and casimersen are approved, nearly a third of the boys and young men living with DMD in the United States could benefit from our RNA therapies. We continue to advance toward our ultimate goal of profoundly improving the lives of as many patients around the world with DMD as possible.”

Dystrophin is a protein found in muscle cells that, while present in extremely small amounts (about 0.002 percent of total muscle protein), is crucial in strengthening and protecting muscle fibers. A devastating and incurable muscle-wasting disease, DMD is associated with specific errors in the gene that codes for dystrophin, a protein that plays a key structuralrole inmuscle fiber function. Progressive muscle weakness in the lower limbsspreadsto the arms, neck and other areas of the body. The condition is universally fatal, and death usually occurs before the age of 30 generally due to respiratory or cardiac failure. Casimersen uses Sarepta Therapeutics’ proprietary phosphorodiamidate morpholino oligomer (PMO) chemistry and exon-skipping technology to skip exon 45 of the DMD gene. Casimersen is designed to bind to exon 45 of dystrophin pre-mRNA, resulting in exclusion, or “skipping”, of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 45 skipping. Exon skipping is intended to allow for production of an internally truncated dystrophin protein.

About the ESSENCE Study

The ESSENCE study is a double-blind, placebo-controlled, multi-center study to evaluate the efficacy and safety of casimersen (SRP-4045) and golodirsen (SRP-4053). Eligible patients with out-of-frame deletion mutations amenable to exon 45 or 53 skipping are randomized to receive once weekly intravenous (IV) infusions of 30 mg/kg SRP-4045 or 30 mg/kg SRP-4053 respectively (combined-active group) or placebo for up to 96 weeks. This is followed by an open label extension period in which all patients will receive open-label active treatment for 48 weeks, up to Week 144 of study.

Clinical efficacy is being assessed at regularly scheduled study visits, including functional tests such as the six-minute walk test (6MWT). All patients undergo a muscle biopsy at baseline and will undergo a second muscle biopsy either at Week 48 or Week 96.

Safety is being assessed through the collection of adverse events, laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations throughout the study.

The study istitled, “A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy.”

About Duchenne Muscular Dystrophy

DMD is an X-linked rare degenerative neuromuscular disorder causing severe progressive muscle loss and premature death. One of the most common fatal genetic disorders, DMD affects approximately one in every 3,500 - 5,000 male births worldwide.

About Sarepta Therapeutics

Sarepta is at the forefront of precision genetic medicine, having built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and more recently in gene therapies for 5 Limb-girdle muscular dystrophy diseases (LGMD), Charcot-Marie-Tooth (CMT), MPS IIIA, Pompe and other CNS-related disorders, totaling over 20 therapies in various stages of development. The Company’s programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing.

Sarepta is fueled by an audacious but important mission: to profoundly improve and extend the lives of patients with rare genetic-based diseases.

For more information, please visit

Industry Partner News: Solid Biosciences Shares Preliminary Data and Intention to Dose Escalate in IGNITE DMD


Dear Duchenne Community,

Today we announced our intention to move to a higher dose of SGT-001 in IGNITE DMD, our Phase I/II clinical trial evaluating SGT-001 microdystrophin gene therapy as a potential treatment for Duchenne. This decision is based on our initial look at the muscle biopsies from the first three boys who received the starting dose of SGT-001 in the clinical trial. You can find the press release here. We wanted to take a moment to share with the Duchenne community what these findings mean and how we are moving forward.

First, we want to let you know that all three boys who received SGT-001 continue to do well, and we are following them per our study protocol. As for the biopsy data, we were able to see microdystrophin expression across some measures, although it was low. These initial results support moving forward with evaluation of higher doses in the clinical trial.

From the beginning, IGNITE DMD was designed as a dose escalation study meaning it is intended to evaluate SGT-001 at a series of progressively higher dose levels. This design allows us to uncover what may work best in boys with Duchenne in a thoughtful way. All the data we have from preclinical studies at different doses of SGT-001 suggest that microdystrophin expression will be greater at higher SGT-001 doses.

We are now working to expedite the planned dose escalation strategy that is outlined in the clinical trial protocol and begin evaluating a higher dose of SGT-001 in IGNITE DMD as soon as possible. Importantly, we have enough drug to do this successfully and without delay.

We believe SGT-001 has the potential to be a transformative therapy for patients with Duchenne, and we remain fully committed to moving forward as rapidly as possible. We are extremely grateful to the patients and families who choose to participate in our clinical efforts, and in all clinical studies aimed at improving the lives of patients with Duchenne.

We have included below some questions and answers that may help clarify this news. We look forward to providing an update soon.


The Solid Team

Questions and Answers

Why didn’t you see higher dystrophin expression with the initial dose of SGT-001? What gives you confidence that a higher dose will work?

As you might know, IGNITE DMD was designed to evaluate multiple doses of SGT-001. You can see this from the clinical trial design image below. One goal of dose escalation studies with new and innovative technologies is to start with a dose level that maximizes safety while providing the potential for efficacy and then proceed to higher doses in a thoughtful manner to safely achieve maximum efficacy.

To select our starting dose, we studied SGT-001 extensively in preclinical disease models. Now we are able to combine our preclinical understanding of SGT-001 at higher doses with the data we communicated today to support the expectation that a higher dose will result in higher microdystrophin expression.


What are the next steps?

We are actively working with the appropriate groups to enable dose escalation as quickly as possible. With thoughtful planning, we already have the operations and drug supply in place to dose at higher levels without delay. We anticipate this to be a relatively quick process and will provide an update as soon as we can.

Can you update the community on the clinical trial site?

Our partnership with the University of Florida on IGNITE DMD remains strong and we continue to be profoundly thankful for Dr. Barry Byrne and his dedicated team.

What happens with the patients enrolled or waiting to be enrolled in IGNITE DMD?

The boys involved in the study are our number one priority. All activities at the University of Florida will continue as planned. The only change is that future patients may now receive a higher dose of SGT-001.

What does this mean for the boys who have already been dosed?

First and foremost, these boys continue to do well, and the early signals of microdystrophin expression, albeit low, are encouraging. We will continue to follow them per our study protocol to understand potential impact of SGT-001 on disease progression, as well as for long term safety.

For more, please visit

Industry Partner News: NS Pharma's Community Letter Regarding Initiation of the rolling NDA Submission for Viltolarsen (NS-065/NCNP-01)


NS Pharma Community Letter

Dear Friends,

NS Pharma is pleased to announce that we have initiated submission of a rolling New Drug Application (NDA) seeking accelerated approval for viltolarsen (NS-065/NCNP-01), an investigational drug for the treatment of Duchenne Muscular Dystrophy (DMD) in patients amenable to exon 53 skipping. While this is the first step towards the US regulatory approval, we wanted to share our news with the DMD community.

As you may know, NS Pharma has completed a Phase 2 study in North America, and its parent company, Nippon Shinyaku Co., Ltd. (Headquarters, Kyoto, Japan; President, Shigenobu Maekawa) completed a Phase 1/2 study in Japan. The scientists, investigators, and families all made great efforts to collect data about the safety and efficacy of viltolarsen (NS-065/NCNP-01) in clinical trials. Viltolarsen (NS-065/NCNP-01) is not approved in any country for use outside clinical trials.

Working together to analyze the data, we have decided to move forward to seek regulatory approval. We have submitted the first portion of the data and reports to the US Food and Drug Administration (FDA) under rolling review pathway. Under that pathway, the sponsor is allowed to start submission with completed portions of the application for review by FDA rather than waiting until every portion is completed. NS Pharma plans to complete the NDA submission in September 2019.

Finally, we would like to take this moment to thank all the researchers, clinical trial staff, and families around the world who have made this step possible. We deeply appreciate everyone’s hard work and dedication, and thank you for your continued support.

Thank you,

Tsugio Tanaka President,
NS Pharma, Inc.

For family or community questions: Email To learn more about viltolarsen (NS -065/NCNP-01): Please visit


Industry Partner News: Wave Life Sciences Announces Positive Phase 1 Results for WVE-210201 in Duchenne Muscular Dystrophy (DMD)

Wave Life Sciences.png

December 6, 2018

Dear Duchenne Community,

We would like to share an exciting update about our lead Duchenne muscular dystrophy (DMD) clinical program. This morning, Wave Life Sciences announced positive safety and tolerability results from the WVE-210201 Phase 1 clinical trial in boys with Duchenne muscular dystrophy who are amenable to exon 51 skipping.

The data from this trial support our moving forward with a Phase 2/3 clinical trial of WVE-210201, which we intend to initiate in 2019, and propel us towards achieving our collective goal of inducing meaningful, natural dystrophin expression in boys with DMD.

For more information, we invite you to read our announcement here.

Importantly, thank you to all of the boys and their families who are participating in this Phase 1 trial and its open-label extension, as well as the advocacy organizations that have provided invaluable guidance and collaboration along the way. Your contributions and partnership are deeply appreciated.

At Wave Life Sciences, we are focused on delivering transformational therapies for patients with serious, genetically-defined diseases. Today’s announcement has taken us one step closer to achieving this objective. We look forward to continuing our engagement with you as we work together to make a difference for people impacted by Duchenne.


Paul Bolno, MD, MBA
President and Chief Executive Officer

Wendy Erler, MBA
Vice President, Patient Advocacy and Market Insights
Wave Life Sciences

Industry Partner News: Santhera Enters into Agreement to Acquire Option from Idorsia for Exclusive Sub-License of First-in-class Dissociative Steroid Vamorolone

Santhera will hold a webcast tomorrow, November 21, 2018 at 13:00 CET, 12:00 GMT, 07:00 EST. Details at the end of statement.

Santhera Enters into Agreement to Acquire Option from Idorsia for Exclusive Sub-License of First-in-class Dissociative Steroid Vamorolone

• Vamorolone in clinical development for Duchenne muscular dystrophy (DMD) by ReveraGen BioPharma Inc. – pivotal VISION-DMD Phase IIb study ongoing

• Vamorolone has the potential to become standard of care in young patients with DMD

• Positions Santhera as a leading company in the DMD space with two late-stage assets addressing the medical need of DMD patients at all disease stages

• Idorsia to become the largest shareholder in Santhera with a 13.3% equity stake

Pratteln and Allschwil, Switzerland, November 20, 2018 – Santhera Pharmaceuticals (SIX: SANN) and Idorsia Ltd (SIX: IDIA) have entered into an agreement under which Santhera will acquire the option to exclusively in-license, by way of sub-license, the first-in-class dissociative steroid vamorolone in all indications and all countries worldwide except Japan and South Korea. Initial clinical data suggest that vamorolone has the anti-inflammatory efficacy of steroids with reduced steroid-associated safety concerns, which would represent a significant improvement over current standard of care glucocorticoid therapy in patients with Duchenne muscular dystrophy (DMD), vamorolone’s lead indication.

Thomas Meier, PhD, Chief Executive Officer of Santhera, said: “Vamorolone is a highly promising drug candidate for the treatment of patients with DMD and a perfect strategic fit alongside idebenone. Our late-stage DMD drug portfolio covers a broad DMD patient spectrum, irrespective of genetic background, disease stage or age. This agreement underscores our strategy of in-licensing high-quality, late-stage rare disease assets, which leverage our existing capabilities and expertise. We are also delighted to welcome Idorsia as our largest shareholder and partner and look forward to working with ReveraGen in the development of vamorolone, which has the potential to replace standard glucocorticoids as treatment for DMD.”

Vamorolone – first-in-class dissociative steroid Vamorolone is a first-in-class drug candidate that binds to the same receptors as glucocorticoids but modifies the downstream activity of the receptors. This has the potential to ‘dissociate’ efficacy from typical steroid safety concerns and therefore could replace existing glucocorticoids, the current standard of care in children and adolescent patients with DMD. There is significant unmet medical need in this patient group as high dose glucocorticoids have severe systemic side effects, which limit long-term usage.

Vamorolone was discovered by US-based ReveraGen BioPharma Inc. and has been developed with participation in funding and design of studies by 12 international non-profit foundations, the US National Institutes of Health, the US Department of Defense and the European Commission’s Horizon 2020 program. Actelion had acquired an option to license the product in 2016. This option was subsequently transferred to Idorsia following the acquisition of Actelion by Johnson & Johnson in 2017.

Eric Hoffman, PhD, Chief Executive Officer of ReveraGen, commented: “Our hope for vamorolone is that it can replace existing glucocorticoids in DMD therapy. Early clinical development of vamorolone in patients with DMD, using an innovative approach with an array of pre-selected biomarkers in multiple contexts of use, suggests that vamorolone preserves anti-inflammatory efficacy while decreasing steroid- associated safety concerns. I am delighted to work with Santhera to advance this exciting therapeutic candidate for patients with DMD.”

Vamorolone in DMD Following single and multiple ascending dose clinical pharmacology studies (VBP15-001) in healthy volunteers [1] vamorolone completed a Phase IIa study (VBP15-002) in 48 boys with DMD aged 4 to <7 years. Vamorolone was reported to be safe and well tolerated up to 6.0mg/kg/day, around 10 times the standard glucocorticoid dose [2]. A 6-month extension study (VBP15-003) also demonstrated dose- dependent improvement in timed function tests which was comparable to standard glucocorticoid treatment.

The ongoing Phase IIb VISION-DMD study (VBP15-004) builds on the available promising preliminary safety and efficacy data from Phase IIa and is designed to bridge exploratory biomarker data to clinical outcomes. This pivotal study will enroll approximately 120 boys aged 4 to <7 with DMD that have not yet been treated with glucocorticoids, randomized to one of four groups: low dose vamorolone (2 mg/kg/day), high dose vamorolone (6 mg/kg/day), prednisone (0.75 mg/kg/day), or placebo. After the initial 24-week treatment period, the prednisone and placebo groups will cross-over to low dose or high dose vamorolone. The second treatment period then has all patients treated for an additional 20 weeks with vamorolone. Clinical outcomes for efficacy include timed function tests and measures of muscle strength and endurance. Clinical outcomes for safety include monitoring of bone changes, weight changes, cataracts, and biomarkers of metabolic disturbances.

The study is being conducted at approximately 30 sites across North America, Europe, Israel and Australia. Enrolment, which began in August 2018, is expected to take about 12 months, with a total study duration of about 24 months. If successful, the data filing with health authorities in the US is anticipated by the end of 2020 and in the EU in 2021. Vamorolone has received Orphan Drug Designation in the US and in Europe and fast-track status in the US.

Santhera management anticipates peak sales potential for vamorolone for the DMD indication of USD 500 million.

The Agreement Under the terms of the agreement, Idorsia will grant Santhera the option to obtain an exclusive sub- license for vamorolone in all indications and all territories except Japan and South Korea. Idorsia will receive as consideration for entering into the agreement 1,000,000 (one million) new registered shares from Santhera’s existing authorized share capital and an upfront cash component of USD 20 million, of which USD 15 million is intended to compensate Idorsia for its investment into the Phase IIb VISION-DMD study currently conducted by ReveraGen. While the cash component of the consideration is subject to financing, the share component of the consideration is unconditional and, like the cash component, not redeemable under any circumstances. As a consequence of the transaction, Idorsia will become the largest shareholder in Santhera with a 13.3% equity position. The shares to be issued to Idorsia will be subject to a lock-up undertaking expiring if and when vamorolone receives marketing authorization in DMD in the United States. Santhera may exercise the option upon receipt of data from the Phase IIb VISION-DMD study (VBP15-004) and following a one-time consideration to Idorsia of USD 30 million.

Following the exercise of the worldwide vamorolone license option by Idorsia and exercise of the vamorolone sub-license option for all territories worldwide except Japan and South Korea by Santhera, Santhera will pay to Idorsia regulatory and commercial milestone payments of up to USD 80 million in the DMD indication and four one-time sales milestone payments of up to USD 130 million in aggregate. Regulatory milestone payments by Santhera to Idorsia for three additional indications amount to up to USD 205 million in aggregate. Upon commercialization of vamorolone, Santhera has committed to pay tiered royalties ranging from a single-digit percentage to low double-digit percentage on the annual net sales of vamorolone to Idorsia.

Jean-Paul Clozel, MD, Chief Executive Officer of Idorsia, concluded: “With four compounds in late-stage clinical development and more innovative compounds coming through the pipeline, Idorsia’s newly established commercial function has many assets to focus on. We have decided to hand the option to license vamorolone to Santhera because they are ideally placed to maximize the potential of this asset. If successful, Santhera’s network and expertise in the field of DMD will allow patients to benefit from this potential new treatment approach as soon as possible. In addition, with this agreement we become Santhera’s largest shareholder, so we remain highly motivated and committed to make vamorolone a success.”

Centerview Partners acted as exclusive strategic and financial advisor to Santhera for this transaction.

Santhera Webcast & Conference Call
Santhera will hold an audio webcast / conference call tomorrow, November 21, 2018 at 13:00 CET, 12:00 GMT, 07:00 EST to discuss the agreement on vamorolone. Participants are invited to join either the audio webcast or telephone conference 10-15 minutes before the start: Webcast: click this link to access the webcast Telephone conference: dial one of the following numbers (no code required): Europe: +41 58 310 50 00 UK: +44 207 107 0613 USA: +1 631 570 5613

For the full Press Release please click here. For further information, please visit

Industry Partner News: Solid Biosciences Reports Third Quarter 2018 Financial Results And Provides Business Update

Two Additional Patients Dosed With SGT-001 Gene Transfer in IGNITE DMD Clinical Trial

Company Plans to Report Preliminary Results from IGNITE DMD in the First Quarter of 2019

CAMBRIDGE, Mass., Nov. 13, 2018 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. (NASDAQ: SLDB) today reported financial results for the third quarter ended September 30, 2018 and provided a business update.

“We are pleased to have made significant progress toward our goal of bringing meaningful treatments to patients with Duchenne muscular dystrophy,” said Ilan Ganot, Chief Executive Officer, Co-Founder and President of Solid Biosciences. “Most notably, we resumed dosing in the Phase I/II IGNITE DMD clinical trial for our SGT-001 microdystrophin gene therapy program. This progress was complemented by continued work on our innovative and scalable manufacturing process, which enabled us to move forward with the study as planned and without delay. We believe that the unique attributes included in SGT-001 could translate to significant benefit for patients and now look forward to providing preliminary biopsy data from IGNITE DMD in the first quarter of 2019. We also remain on track to provide data from our previously communicated interim analysis in the second half of 2019.”

“We are pleased with the progress we have made on IGNITE DMD, dosing two additional patients with SGT-001 since the study resumed,” said Jorge Quiroz, M.D., Chief Medical Officer of Solid Biosciences. “Six patients have now been randomized in IGNITE DMD, three to the active treatment group, all of whom are doing well, and three to the delayed treatment control group. Continuing to enroll IGNITE DMD is a top priority, and we look forward to understanding the potential of SGT-001 in the clinic. As always, we remain grateful to the patients and families participating in IGNITE DMD and the team at the University of Florida.”

Recent Developments

  • Solid is continuing to enroll IGNITE DMD, the Company’s randomized, controlled Phase I/II clinical trial to assess the safety and efficacy of SGT-001 (AAV-mediated microdystrophin gene transfer) for the treatment of Duchenne muscular dystrophy (DMD). In total, six patients have been randomized in IGNITE DMD, three to the active treatment group and three to the delayed treatment control group. This number includes two additional patients who have been dosed since the study resumed in June. All three patients who have received SGT-001 are currently doing well.

    There were no serious adverse events observed in the second or third patients dosed. Laboratory findings, including a transient decline in platelet count that has fully resolved, were quickly identified and managed per the study protocol. Solid continues to enroll patients in IGNITE DMD and plans to communicate preliminary results, including microdystrophin expression data, in the first quarter of 2019.          

  • In September, Solid announced that the Company appointed clinical and gene therapy expert Sukumar Nagendran, M.D., to its Board of Directors. Dr. Nagendran brings to Solid more than 30 years of experience in key functional areas, including gene therapy development, clinical strategy, medical affairs and diagnostics. Most recently, Dr. Nagendran was Chief Medical Officer & Senior Vice President of AveXis Inc., where he was responsible for overseeing and driving all clinical development and medical affairs strategy, notably for the company’s late-stage AAV-mediated gene therapy program for Spinal Muscular Atrophy (SMA). 

  • In October, Solid received Fast Track Designation for SGT-001 from the U.S. Food and Drug Administration (FDA). The Fast Track program is designed to expedite the development and review of drugs to treat serious or life-threatening conditions and fill an unmet medical need.

Financial Highlights 
Solid Biosciences reported a net loss of $19.0 million for the third quarter of 2018 as compared to $13.5 million for the third quarter of 2017. The net loss was due to research and development expenses, as well as investments in the Company’s infrastructure.

Research and development expenses for the third quarter of 2018 were $14.7 million as compared to $10.6 million for the prior year period. This increase was primarily due to personnel and facility related expenses and costs related to clinical development and manufacturing activities for SGT-001, as well as our other product candidates. These increases were offset by a reduction in preclinical costs associated with SGT-001.

General and administrative expenses were $4.5 million for the third quarter of 2018 as compared to $3.1 million for the prior year period. This increase was primarily due to personnel and facility related costs, as well as other corporate expenses.  

Solid ended the third quarter of 2018 with $145.4 million in cash, cash equivalents and available-for-sale securities as compared to $69.1 million as of December 31, 2017. The increase was primarily the result of the completion of the Company’s initial public offering on January 30, 2018.

About SGT-001
Solid’s lead candidate, SGT-001, is a novel adeno-associated viral (AAV) vector-mediated gene transfer under investigation for its ability to address the underlying genetic cause of Duchenne muscular dystrophy (DMD), mutations in the dystrophin gene that result in the absence or near-absence of dystrophin protein. SGT-001 is a systemically administered candidate that delivers a synthetic dystrophin transgene, called microdystrophin, to the body. This microdystrophin encodes for a functional protein surrogate that is expressed in muscles and stabilizes essential associated proteins, including neuronal nitric oxide synthase (nNOS). SGT-001 utilizes AAV9, which has an affinity for muscle and is currently being evaluated in multiple clinical programs in other indications. Data from Solid’s preclinical program suggest that SGT-001 has the potential to slow or stop the progression of DMD, regardless of genetic mutation or disease stage.

SGT-001 is based on pioneering research in dystrophin biology by Dr. Jeffrey Chamberlain of the University of Washington and Dr. Dongsheng Duan of the University of Missouri. SGT-001 has been granted Rare Pediatric Disease Designation, or RPDD, and Fast Track Designation in the United States and Orphan Drug Designations in both the United States and European Union.

About Solid Biosciences
Solid Biosciences is a life science company focused solely on finding meaningful therapies for Duchenne muscular dystrophy (DMD). Founded by those touched by the disease, Solid is a center of excellence for DMD, bringing together experts in science, technology and care to drive forward a portfolio of candidates that have life-changing potential. Solid is progressing programs across four scientific platforms: Corrective Therapies, Disease-Modifying Therapies, Disease Understanding and Assistive Devices. For more information, please visit

Industry Partner News: Sarepta Therapeutics Announces Third Quarter 2018 Financial Results and Recent Corporate Developments

Sarepta Therapeutics reports financial results for the third quarter of 2018.

“We are pleased to report another positive quarter, delivering strong EXONDYS 51 sales and tracking to achieve our full-year sales objectives while both advancing our RNA pipeline and making substantial progress in the creation of an enduring gene therapy engine,” stated Doug Ingram, Sarepta’s president and chief executive officer. “We continued this quarter to advance our RNA pipeline, PMOs and nextgeneration PPMO platform, with urgency. Further, the strides we have taken in service of our gene therapy engine, including unprecedented resultsin our micro-dystrophin program, rightsto what are now 14 gene therapy programs, the addition of manufacturing partners, and the continued hiring of gene therapy talent, speak to our vision. Others may be content with steady progress. We see a revolution and it is our intention to lead that revolution to the benefit of countless genetic disease patients awaiting lifeenhancing therapies.”

Read the full press release here.

Industry Partner News: Jerry Mendell, M.D., Presented Positive Updated Results at World Muscle Society from Four Children Dosed in Sarepta's Gene Therapy Micro-dystrophin Trial for DMD


Dear Duchenne Community,

At the World Muscle Society in Argentina today, Dr. Jerry Mendell of Nationwide Children’s Hospital shared additional data relating to our micro-dystrophin gene therapy program. In particular, as a follow up to his presentation of the first three patients at our R&D Day in June of this year, Dr. Mendell today shared micro-dystrophin results for the fourth patient and provided positive functional signals for all patients.

It is important to remember that while we are very encouraged by all of the results we have to date, these are early days relating to our first four patients. It is important that we quickly commence a controlled trial to confirm these results. Fueled by our preliminary data, we are moving with a sense of urgency to move to a study that, if successful, could bring this therapy to those patients who can benefit from it.

As mentioned in June, the next micro-dystrophin trial will take place in the United States, will be carried out by Nationwide Children’s Hospital, and will be limited in size. Sarepta is mapping ways to expand the gene therapy clinical program to a broader population with considerations of study inclusion and geography. We will update the community about the plans as we finalize them.

Given the volume of inquiries received about this investigational effort, we know that there is a high level of anticipation within the worldwide Duchenne community surrounding gene therapy. Physicians and advocacy groups alike have expressed hope that families will stay focused on current treatment plans and investigational options selected in consultation with their healthcare team.

Let us once again be reminded that as encouraged as we are, these are preliminary results and we must continue to follow our initial patients and commence a controlled trial. But also know this, we are investing our energy, resources and creativity to moving the development forward as fast as is possible, planning meetings with the FDA and other agencies around the world to take their input, building a compelling access and reimbursement package, and establishing sufficient manufacturing capacity to fully serve the community if our program is successful.

I will provide additional updates as the program moves forward.


Douglas S. Ingram
President and Chief Executive Officer
Sarepta Therapeutics, Inc

Industry Partner News: Catabasis Pharmaceuticals Initiates Phase 3 PolarisDMD Clinical Trial for Edasalonexent in Duchenne Muscular Dystrophy


Pivotal Study of Novel Inhibitor of NF-kB, a Key Driver of Skeletal Muscle Disease and Cardiomyopathy in Duchenne

CAMBRIDGE, Mass., September 25, 2018 – Catabasis Pharmaceuticals, Inc. (NASDAQ:CATB), a clinical-stage biopharmaceutical company, today announced the initiation of PolarisDMD, the Company’s Phase 3 trial for edasalonexent in Duchenne muscular dystrophy (DMD). Edasalonexent inhibits NF-kB, which is the key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD. The PolarisDMD trial will evaluate the efficacy and safety of edasalonexent in patients with DMD and is intended to support an application for commercial registration of edasalonexent. Top-line results from the Phase 3 PolarisDMD trial are expected in the second quarter of 2020.

Click to read the Catabasis Quarterly for September 2018.

Click to read the Catabasis Quarterly for September 2018.

PolarisDMD clinical trial sites across the United States will open in the coming days for enrollment of the Phase 3 PolarisDMD trial, with enrollment expected to run through this year and into next year. Additional sites in Australia, Canada, Europe and Israel are also expected to open early next year. In total, the PolarisDMD trial is expected to include approximately 40 clinical trial sites globally. The trial design was informed by discussions with the U.S. Food and Drug Administration (FDA) as well as input from treating physicians, patient organizations and families of boys affected by Duchenne.

“We are very excited to initiate our Phase 3 PolarisDMD trial as we believe edasalonexent has tremendous potential to become the new standard of care for all affected by Duchenne, regardless of mutation type and from the time of diagnosis throughout their lifespan,” said Joanne Donovan, M.D., Ph.D., Chief Medical Officer of Catabasis. “Edasalonexent inhibits NF-kB, which plays a fundamental role in skeletal and cardiac muscle disease in Duchenne. In the MoveDMD trial, edasalonexent slowed disease progression and preserved muscle function.”

The Phase 3 PolarisDMD trial is a one-year, randomized, double-blind, placebo-controlled trial. Catabasis plans to enroll approximately 125 patients ages 4 to 7 (up to 8th birthday) regardless of mutation type who have not been on steroids for at least 6 months. Boys on a stable dose of eteplirsen may be eligible to enroll. The primary efficacy endpoint will be change in the North Star Ambulatory Assessment score after 12 months of treatment with edasalonexent compared to placebo. Key secondary endpoints include the age-appropriate timed function tests time to stand, 4-stair climb and 10-meter walk/run. Assessments of growth, cardiac and bone health are also included. Two boys will receive 100 mg/kg/day of edasalonexent for each boy that receives placebo and after 12 months, all boys are expected to receive edasalonexent in an open-label extension.

“We are so glad to bring edasalonexent into Phase 3 for boys affected by Duchenne that could benefit from this potential therapy,” said Richard Finkel, M.D., Chief, Division of Neurology, Department of Pediatrics at Nemours Children’s Health System and a Principal Investigator for the Phase 2 and Phase 3 trials with edasalonexent. “With the stabilization of muscle function and excellent safety profile seen with edasalonexent treatment in the MoveDMD trial, patients and families are eager for a treatment for Duchenne that has demonstrated slowed disease progression in the clinic.”

“PPMD has conducted preference studies of those impacted by Duchenne to understand what is most important for novel therapies. Families responded that their highest priority is to stop or even slow disease progression and maintain muscle function,” Pat Furlong, Founding President and Chief Executive Officer of Parent Project Muscular Dystrophy (PPMD). “We are enthusiastic to see edasalonexent, with these potential effects, entering the Phase 3 PolarisDMD trial as an oral therapy that could treat all of those affected by Duchenne.”

Edasalonexent has been shown to preserve muscle function and substantially slow DMD disease progression across all four assessments of muscle function (the North Star Ambulatory Assessment, time to stand, 4-stair climb and 10-meter walk/run) compared to control in the MoveDMD® Phase 2 trial and open-label extension. Preclinical data and clinical biomarker data from the MoveDMD Phase 2 trial suggest that edasalonexent could have potential benefits in skeletal muscle, diaphragm and heart. Edasalonexent has been well tolerated through more than 45 patient-years of treatment with no safety signals observed.

More information about the Phase 3 PolarisDMD clinical trial will be available on in the coming days or contact the Catabasis clinical team via email at

About Edasalonexent (CAT-1004)
Edasalonexent (CAT-1004) is an investigational oral small molecule that is being developed as a potential new standard of care for all patients affected by DMD, regardless of their underlying mutation. Edasalonexent inhibits NF-kB, which is the key link between loss of dystrophin and disease progression. NF-kB has a fundamental role in skeletal and cardiac muscle disease in DMD. Catabasis is currently enrolling the single global Phase 3 PolarisDMD trial to evaluate the efficacy and safety of edasalonexent for registration purposes. Edasalonexent continues to be dosed in an open-label extension of the MoveDMD Phase 2 clinical trial. The FDA has granted orphan drug, fast track and rare pediatric disease designations and the European Commission has granted orphan medicinal product designation to edasalonexent for the treatment of DMD. For a summary of clinical results, please visit

About Catabasis
At Catabasis Pharmaceuticals, our mission is to bring hope and life-changing therapies to patients and their families. Our lead program is edasalonexent, an NF-kB inhibitor in development for the treatment of Duchenne muscular dystrophy. The global Phase 3 PolarisDMD trial is currently enrolling boys affected by Duchenne. For more information on edasalonexent and our Phase 3 PolarisDMD trial, please visit or

Forward Looking Statements
Any statements in this press release about future expectations, plans and prospects for the Company, including statements about future clinical trial plans including, among other things, statements about the Company’s global Phase 3 PolarisDMD trial in DMD to evaluate the efficacy and safety of edasalonexent for registration purposes, and other statements containing the words “believes,” “anticipates,” “plans,” “expects,” “may” and similar expressions, constitute forward- looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: uncertainties inherent in the initiation and completion of preclinical studies and clinical trials and clinical development of the Company’s product candidates; whether interim results from a clinical trial will be predictive of the final results of the trial or the results of future trials; expectations for regulatory approvals to conduct trials or to market products; availability of funding sufficient for the Company’s foreseeable and unforeseeable operating expenses and capital expenditure requirements; other matters that could affect the availability or commercial potential of the Company’s product candidates; and general economic and market conditions and other factors discussed in the “Risk Factors” section of the Company’s Quarterly Report on Form 10-Q for the quarter ended June 30, 2018, which is on file with the Securities and Exchange Commission, and in other filings that the Company may make with the Securities and Exchange Commission in the future. In addition, the forward-looking statements included in this press release represent the Company’s views as of the date of this press release. The Company anticipates that subsequent events and developments will cause the Company’s views to change. However, while the Company may elect to update these forward- looking statements at some point in the future, the Company specifically disclaims any obligation to do so. These forward-looking statements should not be relied upon as representing the Company’s views as of any date subsequent to the date of this release.


Investor and Media Contact
Andrea Matthews
Catabasis Pharmaceuticals, Inc.
T: (617) 349-1971

Industry Partner News: Sarepta Announces Clinical Hold Lifted for its DMD Micro-dystrophin Gene Therapy Program


CAMBRIDGE, Mass., September 24, 2018 (GLOBE NEWSWIRE) – Sarepta Therapeutics, Inc. (NASDAQ:SRPT), a commercial-stage biopharmaceutical company focused on the discovery and development of precision genetic medicine to treat rare neuromuscular diseases, announced today that the Food and Drug Administration (FDA) has lifted the clinical hold for the Company’s Duchenne muscular dystrophy (DMD) micro-dystrophin gene therapy program. Sarepta previously announced on July 25, 2018, that the FDA placed the program on clinical hold due to the presence of trace amounts of DNA fragment in research-grade third-party supplied plasmid in a manufacturing lot. In response, and in collaboration with Nationwide Children’s Hospital, an action plan was developed and submitted to the FDA, including an audit of the plasmid supplier and a commitment to use GMP-s plasmid for all future production lots.

“Thanks to the diligent and rapid work of my Sarepta colleagues and Nationwide Children’s Hospital in compiling and submitting a complete response and the expeditious evaluation by the FDA in reviewing the response and removing this clinical hold, we have been able to address the clinical hold in record time and without delay to this profoundly important clinical program,” stated Doug Ingram, Sarepta’s president and chief executive officer. “Our focus now is on meeting with the Division to take guidance and gain alignment around what we hope to be our registration trial for our micro-dystrophin program and achieving our goal of commencing that trial by year-end 2018.”

About Sarepta Therapeutics

Sarepta Therapeutics is a commercial-stage biopharmaceutical company focused on the discovery and development of precision genetic medicine to treat rare neuromuscular diseases. The Company is primarily focused on rapidly advancing the development of its potentially disease-modifying Duchenne muscular dystrophy (DMD) drug candidates. For more information, please visit

Industry Partner News: Community Letter from Sarepta Regarding CHMP's Negative Opinion for Eteplirsen

Please read the following community letter from Douglas S. Ingram, President and Chief Executive Officer of Sarepta Therapeutics, Inc., regarding the Committee for Human Medicinal Products (CHMP) in Europe’s negative opinion for eteplirsen.

21 September 2018

Dear European Duchenne Community,

This morning Sarepta announced that following its request for re-examination, the Committee for Human Medicinal Products (CHMP) in Europe issued a negative opinion for eteplirsen. While we recognized the probability of success was low, we committed our full resources and energy to this re-examination because we believe that the European Duchenne community deserves access to eteplirsen.

We are grateful for your insights, contributions and thoughtful engagement during this process. We also appreciated the open additional dialogue and advice we received from the CHMP, who signaled an openness to considering a regulatory pathway that could balance the needs of patients and their families with the requirements for additional supportive data. For eteplirsen, our next step is to initiate a request for follow up scientific advice, which we plan to do in 2019.

Given our discussions and commitment to the Duchenne community, we will continue to engage the European Medicines Agency (EMA) and explore the most appropriate path forward for eteplirsen and our other investigational medicines. We will seek scientific advice for our clinical programs as we continue to advance our pipeline of Duchenne therapies, including next-generation PPMO RNA therapy and the micro-dystrophin gene therapy candidate.

Despite today’s news, we continue to believe that there is a path forward in Europe to bring new therapies that can improve the lives of individuals living with Duchenne. Sarepta will continue to sponsor clinical trials in Europe. The ESSENCE trial is still enrolling in Europe as a method to understand the safety and efficacy of golodirsen and casimersen. There is also an eteplirsen study focused on individuals with Duchenne who are 6 months-48 months old in process. We will soon be initiating our high dose eteplirsen study, as well as trials for our next generation PPMO candidates in Europe.

We look forward to continued engagement as we advance these programs together.


Douglas S. Ingram
President and Chief Executive Officer
Sarepta Therapeutics, Inc


Industry Partner News: Community Letter From Genetech/Roche Regarding RG6026

Please read the following Community Letter pertaining to Roche/Genentech's RG6206 program. 

13 September 2018

Dear Duchenne community,

By now, many have heard about Pfizer’s decision to stop their clinical studies of domagrozumab in Duchenne Muscular Dystrophy. We have received questions as to whether Pfizer’s decision has an impact on our clinical development program of RG6206 in Duchenne.

RG6206 is an investigational anti-myostatin adnectin that is designed to block the activity of myostatin and is given subcutaneously (by injection under the skin). The safety and efficacy of RG6206 in ambulatory boys (6-11 years old) is being evaluated in the Phase 2/3 SPITFIRE clinical study ( reference NCT03039686, Roche study WN40227). Enrollment in the SPITFIRE clinical study is ongoing globally, and there are no planned changes to the study or its timelines as a result of Pfizer’s recent decision.

When evaluating investigational therapies, individual clinical studies are designed to address questions of safety and/or efficacy in a way that is specific and unique to the investigational molecule being studied. This means that studies with different study designs cannot be easily or directly compared. As such, it is not possible to draw comparisons or conclusions about RG6206 based on studies of other molecules with different study designs.

We are very grateful and appreciate the continuous partnership of the Duchenne community and would like to extend our thanks to all study participants and their families.

If you have questions:

  • Regarding your ongoing participation in the SPITFIRE study, or if you are in the screening phase, please contact your study physician.

  • If you are not in the SPITFIRE study, but have questions about RG6206, please contact me at

Warm regards,

Elena Zhuravleva, MD, PhD on behalf of the Roche Duchenne team
Patient Partnership Director, Rare Disease, Roche, Switzerland

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Industry Partner News: Pfizer Announces Decision to Discontinue Domagrozumab Clinical Studies

Today, Pfizer announced the disappointing news that it is discontinuing its clinical studies of Domagrozumab. Please read their letter and press release below for more information.

Dear Jett Foundation,

It is with profound disappointment that we announce our decision to discontinue the
clinical studies evaluating domagrozumab for the treatment of Duchenne muscular
dystrophy (DMD). The two ongoing clinical trials include; a Phase 2 safety and efficacy
study (B5161002) and an open-label extension study (B5161004). The decision comes
following completion of the primary analysis. The primary analysis was based on a
statistical test which compared the difference in the time to climb 4 standard stairs
(known as the 4 Stair Climb) after 1 year of treatment with domagrozumab as compared
to placebo treated subjects. This analysis showed no statistical difference between these
two groups at the one year period. Evaluation of the totality of evidence, including
secondary endpoints, also did not support a significant treatment effect. It is important
to note that the studies were not discontinued for safety reasons.

The discontinued Phase 2 double-blind, placebo-controlled, multicenter, clinical trial
investigated the efficacy and safety of domagrozumab, administered in monthly IV doses,
in 121 boys aged 6 to 15 with DMD, regardless of underlying mutation. It was designed as
a two-year, placebo-controlled study (with the above noted primary analysis performed
after one year); all subjects used background corticosteroid management. The primary
efficacy endpoint was mean change from baseline in 4 Stair Climb (in seconds). Secondary
endpoints included evaluation of the change from baseline of participants on other
functional tests, including forced vital capacity, Northstar Ambulatory Assessment, the
six-minute walk test, muscle strength, range of motion, and Performance of Upper Limb
(PUL). For more information, please visit (NCT02310763).

We expect that this news will deeply disappoint the many families living with DMD who
directly participated in the study, as well as all of the families living with DMD hoping for
therapies that will alter the trajectory of this devastating disease. In recognition of the
continued burden of unmet needs in DMD, Pfizer continues to advance research and
clinical development efforts focused on DMD, including our investigational mini-
dystrophin gene therapy program. In addition, we are involved in efforts focused on
optimizing drug development for DMD. We intend to share data from the phase 2 clinical
study of domagrozumab with the DMD community in order to contribute to the body of
scientific knowledge which may enable the development of new therapies for patients.

In terms of next steps:

  • All clinical sites participating in the domagrozumab DMD studies have been provided with instructions for actions to take with enrolled participants. 

  • Patients and caregivers who have questions regarding their study participation should speak with their study physician for more information. 

  • Pfizer will share additional information about these results with the community when we are able.

We recognize the commitment that the DMD community has provided to these studies
and to our research and development efforts. It is with heartfelt gratitude that we
extend our sincerest ‘thank you’ to all the boys and families who expressed interest in the
study, underwent screening for the study, and to those ultimately participating in the
study. We are also grateful to the advocacy associations and advocates who provided the
tools and support needed for families to engage in clinical research and who continue to
care for the Duchenne community, and to the clinical research sites and staff who
collaborated with us on this important research.

Kind regards,
Michael Binks, MD
Shannon Marraffino
Katherine Beaverson
Rare Disease Research Unit
Pfizer Inc.


Pfizer Terminates Domagrozumab (PF-06252616) Clinical Studies for the Treatment of Duchenne Muscular Dystrophy

NEW YORK, NY, August 30, 2018 - Pfizer Inc. (NYSE: PFE) announced today that it is
terminating two ongoing clinical studies evaluating domagrozumab (PF-06252616) for the treatment of Duchenne muscular dystrophy (DMD): a Phase 2 safety and efficacy study
(B5161002) and an open-label extension study (B5161004). The Phase 2 study (B5161002), did
not meet its primary efficacy endpoint, which was to demonstrate a difference in the mean
change from baseline in 4 Stair Climb (in seconds) following one year of treatment with
domagrozumab as compared to placebo in patients with DMD. Further evaluation of the totality of evidence including secondary endpoints did not support a significant treatment effect. The
decision comes after a thorough review of data available at the time of the primary analysis,
which evaluated all study participants after one year of treatment, as well as those participants
who were in the trial beyond one year. The studies were not terminated for safety reasons. Pfizer
will continue to review the data to better understand any insights they may provide, and will share results with the scientific and patient community.

“We are disappointed by these results and while we are not progressing with the studies, the
data will contribute to a greater understanding of this disease and we will evaluate the total
data set to see if there is a place for this medicine in muscular diseases,” said Seng Cheng,
PhD, Senior Vice President and Chief Scientific Officer, Pfizer Rare Disease Research Unit.
“We are extremely grateful to all those involved with this trial, especially the boys who
participated, and their families.”

Pfizer is continuing research in DMD and rare neuromuscular diseases, with the goal of bringing
therapies to patients with unmet needs. The company’s continued partnership with advocacy
associations and the community is critical to finding innovative therapies for these diseases.
Pfizer has one ongoing clinical trial in DMD with a gene therapy, PF-06939926, which is an
investigational, recombinant AAV9 capsid carrying a truncated or shortened version of the human
dystrophin gene (mini-dystrophin) under the control of a human muscle specific promotor. 1

About the Domagrozumab Clinical Studies 1
The Phase 2 double-blind, placebo-controlled, multicenter clinical trial investigated the efficacy
and safety of domagrozumab, administered in monthly IV doses, in 121 boys aged 6 to 15 with
DMD, regardless of underlying mutation. It was designed as a two-year, placebo-controlled study
(with the primary analysis after one year); all subjects used background corticosteroid therapy.
The open-label extension study was designed to evaluate long-term safety and efficacy of

About Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a rare, serious, debilitating childhood genetic disease
characterized by progressive muscle degeneration and weakness and significantly shortened life
expectancy. It is the most common form of muscular dystrophy worldwide and primarily affects
boys, with incidence of 1 in every 3500 to 5000 live male births each year. 2 , 3 Children with DMD typically present with signs of weakness, including late walking, trouble getting up, and difficulty running or climbing stairs, usually manifesting in early childhood between the ages of 1 and 4 years. 4 The progressive muscle degeneration leads to a loss of the ability to walk in the early teenage years, on average. Weakness of respiratory muscles ultimately leads to use of mechanical ventilatory support, and weakness in cardiac muscle involvement results in cardiomyopathy.

Pfizer Rare Disease
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worldwide, 5 representing an opportunity to apply our knowledge and expertise to help make a
significant impact on addressing unmet medical needs. 1 The Pfizer focus on rare disease builds
on more than two decades of experience, a dedicated research unit focusing on rare disease,
and a global portfolio of multiple medicines within a number of disease areas of focus, including
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