Industry Partner News: Catabasis Completes Phase 3 PolarisDMD Trial Enrollment

Catabasis Pharmaceuticals, Inc. shares a Special Edition Newsletter announcing that the Phase 3 PolarisDMD trial for edasalonexent in Duchenne muscular dystrophy has completed enrollment and exceeded the target enrollment. Read the newsletter here.

“We are thrilled to reach this important milestone. The interest and feedback from families and trial sites has been overwhelmingly positive. At a time when there are multiple trials for Duchenne, we are very pleased that physicians and families chose the Phase 3 PolarisDMD trial for edasalonexent,” said Joanne Donovan, M.D., Ph.D., Chief Medical Officer of Catabasis. “Edasalonexent has the potential to be a foundational therapy, providing benefit to boys, regardless of their underlying mutation, with the potential to benefit muscle function, as well as cardiac function and bone health. We look forward to completing the trial next year and are working diligently toward the goal of making edasalonexent available to patients.”

To read the full press release regarding the announcement, please click here.

Industry Partner News: Sarepta Therapeutics Receives Complete Response Letter from the US Food and Drug Administration for Golodirsen New Drug Application


CAMBRIDGE, Mass., August 19, 2019 (GLOBE NEWSWIRE) – Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced it had received a Complete Response Letter (CRL) from the U.S. Food and Drug Administration (FDA) regarding the New Drug Application (NDA) seeking accelerated approval of golodirsen injection for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation amenable to exon 53 skipping. 

The CRL generally cites two concerns: the risk of infections related to intravenous infusion ports and renal toxicity seen in pre-clinical models of golodirsen and observed following administration of other antisense oligonucleotides. Renal toxicity with golodirsen was observed in pre-clinical models at doses that were ten-fold higher than the dose used in clinical studies. Renal toxicity was not observed in Study 4053-101, on which the application for golodirsen was based. 

“We are very surprised to have received the complete response letter this afternoon. Over the entire course of its review, the Agency did not raise any issues suggesting the non-approvability of golodirsen, including the issues that formed the basis of the complete response letter,” said Doug Ingram, president and chief executive officer, Sarepta. “We will work with the Division to address the issues raised in the letter and, to the fullest extent possible, find an expeditious pathway forward for the approval of golodirsen. We know that the patient community is waiting.” 

Sarepta will immediately request a meeting with the FDA to determine next steps. 

The ESSENCE study (4045-301), a global, randomized double-blind, placebo-controlled study assessing the efficacy and safety of golodirsen and casimersen, our exon-45 skipping agent, is ongoing. 

Forward-Looking Statement 

This press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding our ability to work with the Division to address the issues raised in the letter and find an expeditious pathway forward for the approval of golodirsen, and our immediate request for a meeting with the FDA. 

These forward-looking statements involve risks and uncertainties, many of which are beyond Sarepta’s control. Known risk factors include, among others: we may not be able to obtain FDA approval of golodirsen; we may not be able to complete clinical trials required by the FDA or other regulatory authorities for approval of our product candidates; the results of our ongoing research and development efforts and clinical trials for our products and product candidates may not be positive or consistent with prior results or demonstrate a safe treatment benefit or support an NDA or a BLA filing, positive advisory committee recommendation or marketing approval by the FDA or other regulatory authority; we may not be able to execute on our business plans including meeting our expected or planned regulatory milestones and timelines, clinical development plans and bringing our product candidates to market, including the commercialization of VYONDYS 53, for various reasons, including factors outside of our control, such as possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner or at all, and regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover our product candidates; and those risks identified under the heading “Risk Factors” in Sarepta’s most recent Annual Report on Form 10-K for the year ended December 31, 2018 and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review. 

Any of the foregoing risks could materially and adversely affect the Company’s business, results of operations and the trading price of Sarepta’s common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review Sarepta's 2018 Annual Report on Form 10-K and most recent Quarterly Report on Form 10-Q filed with the SEC as well as other SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof. 

Internet Posting of Information 

We routinely post information that may be important to investors in the 'For Investors' section of our website at We encourage investors and potential investors to consult our website regularly for important information about us. 

Source: Sarepta Therapeutics, Inc. 

Ian Estepan, 617-274-4052, 

Tracy Sorrentino, 617-301-8566,


Industry Partner News: Solid Biosciences' Letter to the Duchenne Community: Update on IGNITE DMD Clinical Trial

Dear Duchenne Community,

We were grateful for the opportunity to connect with so many Duchenne families at PPMD’s Annual Conference at the end of June in Orlando and have the chance to present an update on our IGNITE DMD clinical study. We would like to provide a further update to keep you all informed with the progress of the study.

Today, Solid announced that the second patient has been dosed in the higher dose cohort of the IGNITE DMD Phase I/II clinical trial of SGT-001, an AAV gene transfer candidate under investigation for Duchenne. As a reminder, this higher dose cohort is receiving a single administration of SGT-001 at 2E14 vg/kg, which is four times higher than our starting dose.

Solid has also made protocol amendments to the IGNITE DMD clinical study. One change includes adding an upper weight limit of 25 kg for at least the next patient dosed in the second cohort. Solid remains committed to dosing larger patients in the future. Another protocol amendment is the removal of the matched patient control arm for the rest of the second cohort. We believe these protocol changes will speed up the path to obtaining IGNITE DMD clinical trial results. As always, Solid understands the urgency in advancing meaningful therapies responsibly with the goal of impacting the broadest population of patients affected by Duchenne.

In other recent news, Solid announced in July that the company had raised $60 million in financing, strengthening our financial position.

Solid continues to anticipate providing a data update from the IGNITE DMD clinical trial later this year and we look forward to sharing all progress with the community.


The Solid Biosciences Team

To read more about Solid Biosciences and their second quarter financial reporting, please click here.

Industry Partner News: Audentes Therapeutics Reports Second Quarter 2019 Financial Results and Provides Corporate Update

- Commenced enrollment of 8 patients into an ASPIRO pivotal expansion cohort to confirm the safety and efficacy profile of AT132 for the treatment of X-linked myotubular myopathy (XLMTM) at dose of 3x10^14 vg/kg

- Biologics License Application (BLA) submission for AT132 planned in mid-2020; Marketing Authorization Application (MAA) planned for second half of 2020

- Completed IND-enabling dose ranging and toxicology studies of AT845 for Pompe disease; on track to submit IND in Q3 2019

- Plan to commence Duchenne muscular dystrophy (DMD) patient dosing with AT702 manufactured by Nationwide Children's Hospital (NCH) in Q4 2019; plan to submit IND for Audentes AT702 construct in Q1 2020

- Vector screening studies underway for AT466 for myotonic dystrophy type 1 (DM1); plan to submit IND in 2020

- Strong balance sheet with June 30, 2019 cash, cash equivalents and marketable securities of $378.6 million

SAN FRANCISCO, Aug. 6, 2019 /PRNewswire/ -- Audentes Therapeutics, Inc. (Nasdaq: BOLD), a leading AAV-based genetic medicines company focused on developing and commercializing innovative products for serious rare neuromuscular diseases, today reported its financial results for the second quarter ended June 30, 2019 and provided an update on the company's recent achievements and anticipated upcoming milestones.

"It is a very busy time at Audentes, and we are excited by the significant progress we have made across our portfolio," stated Matthew R. Patterson, Chairman and Chief Executive Officer.  "Following collaborative interactions with FDA and EMA, we have initiated enrollment of eight additional XLMTM patients into an ASPIRO pivotal expansion cohort, which is designed to confirm the safety and efficacy profile of AT132 at a dose of 3x1014 vg/kg.  We are optimistic that these data will support the submission of a BLA for AT132 in mid-2020."

Mr. Patterson continued, "We remain on track for a third quarter IND submission of AT845 for the treatment of Pompe disease.  And importantly, we've made substantial progress advancing our DMD program.  We expect patient dosing with NCH's AT702 construct to commence as planned in the fourth quarter of 2019 and to submit an IND in the first quarter of 2020 for the Audentes AT702 construct, which is designed to serve as the platform for our rapid expansion into additional DMD genotypes next year. Together with our work in myotonic dystrophy, we believe this rich development pipeline positions us well for continued growth and industry leadership in the field of AAV-based genetic medicines for neuromuscular disease."

Recent Achievements & Upcoming Key Events

AT132 for XLMTM:

  • Positive data update from ASPIRO, the Phase 1/2 clinical trial of AT132 for the treatment of XLMTM, presented at the 22nd Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) in May 2019.

  • 3x1014 vg/kg selected as optimal dose.

  • Following collaborative interactions with the FDA and EMA, initiated enrollment of eight additional XLMTM patients into the ASPIRO pivotal expansion cohort, designed to confirm the safety and efficacy profile of AT132 at a dose of 3x1014 vg/kg.

  • Enrollment in the pivotal expansion cohort is expected to be complete in the fall of 2019.

  • BLA submission for AT132 planned in mid-2020; MAA submission planned for the second half of 2020.

  • Next clinical data presentation planned at the 24th International Annual Congress of the World Muscle Society (WMS) in Copenhagen, Denmark, October 1-5, 2019.

Additional information on the ASPIRO Pivotal Expansion Cohort:

  • The pivotal expansion cohort is enrolling eight patients, consisting of four age-matched pairs (+/- 6 months), with one patient from each pair randomized to receive a single dose of AT132 (3x1014 vg/kg) or serve as a delayed treatment control. Delayed treatment control patients will be administered AT132 following the collection of 24-week data from the full pivotal cohort.

  • Patients will be followed for safety and efficacy for five years, with the primary analysis occurring 24 weeks post treatment.

  • Key inclusion criteria: less than 5 years of age or have been enrolled in INCEPTUS, on invasive ventilator support for 20-24 hours per day, unable to sit without assistance for at least 30 seconds.

  • The primary efficacy endpoint is defined as change from baseline in hours of ventilatory support over time through week 24. As of the April 2019 ASPIRO data analysis, all nine patients treated achieved sustained and meaningful reductions in ventilatory support, with four patients successfully completely weaned off of mechanical ventilation.

AT845 for Pompe Disease:

  • Completed IND-enabling dose ranging and toxicology studies.

  • On track to submit IND in the third quarter of 2019.

AT702/AT751/AT753 for DMD:

  • Plan to commence patient dosing in the fourth quarter of 2019 with AT702 produced by NCH. AT702 is designed to induce exon 2 skipping to treat DMD caused by duplications of exon 2 (Dup2) and mutations in exons 1-5 of the dystrophin gene.

  • Dose ranging and toxicology studies underway to support a first quarter 2020 IND submission for the Audentes AT702 construct and transition the balance of the AT702 DMD program into a Phase 1/2 clinical study utilizing this product candidate.

  • The construct backbone of the Audentes AT702 product is designed to serve as a vectorized exon skipping platform for rapid expansion into additional DMD genotypes.

  • Preclinical work is underway to advance AT751 and AT753 to treat DMD patients with genotypes amenable to exons 51 and 53 skipping.

  • In combination, AT702, AT751 and AT753 have the potential to address more than 25% of DMD patients; plan to leverage our vectorized exon skipping platform to develop additional product candidates with the potential to address up to 80% of DMD patients over time.

AT466 for DM1:

  • Preclinical vector screening studies underway.

  • Plan to submit IND in 2020.


  • Advanced chemistry, manufacturing, and controls (CMC) BLA and MAA-readiness efforts for AT132.

  • State-of-the-art, internal, large-scale cGMP manufacturing facility provides sufficient capacity for AT132 global commercialization as well as the near-term clinical development of all pipeline programs.

  • Completed construction and commissioning of state-of-the-art, internal plasmid manufacturing facility to support production of nonclinical and cGMP-grade plasmids for all of our development programs, including the potential commercialization of AT132.


  • Appointed Edward R. Conner, M.D. as Senior Vice President and Chief Medical Officer. Ed is responsible for leading the company's global clinical development strategy and oversees clinical development, clinical operations, regulatory affairs, medical affairs and patient advocacy.

  • Promoted Fulvio Mavilio, Ph.D. to Senior Vice President of Translational Science. Fulvio is responsible for advancing the company's pipeline from discovery through to IND-enabling preclinical development and oversees discovery biology, pharmacology/toxicology, bioinformatics and bioanalytics.

Second Quarter 2019 Financial Results

  • Cash Position: As of June 30, 2019, cash, cash equivalents and marketable securities were $378.6 million.

  • Research and Development Expenses: Research and development expense was $37.3 million for the second quarter of 2019 compared to $26.3 millionfor the same period in 2018, an increase of $11.0 million. The increase was primarily attributable to higher direct program expenses for AT132 and AT845, along with additional R&D headcount to advance clinical and pre-clinical programs. Included in R&D expense for the three months ended June 30, 2019was $3.2 million of non-cash stock-based compensation expense, compared to $2.3 million in the same period in 2018. For the six months ended June 30, 2019, research and development expense was $77.1 million compared to $46.2 million for the same period in 2018.

  • General and Administrative Expenses: General and administrative expense was $9.8 million for the second quarter of 2019 compared to $6.3 million for the same period in 2018. The increase was primarily attributable to headcount increases and infrastructure investment to support growth. Included in G&A expense for the three months ended June 30, 2019 was $2.9 million of non-cash stock-based compensation expense, compared to $1.8 million in the same period in 2018. For the six months ended June 30, 2019, general and administrative expense was $21.8 million compared to $12.8 million for the same period in 2018.

  • Net Loss: Net loss was $44.8 million for the second quarter of 2019 compared to $31.4 million for the same period in 2018. Basic and diluted net loss per share for the three months ended June 30, 2019, was $1.01compared with $0.85 for the same period in 2018. For the six months ended June 30, 2019, net loss was $94.2 million compared to $56.9 million for the same period in 2018. Basic and diluted net loss per share for the six months ended June 30, 2019, was $2.14 compared with $1.59 for the same period in 2018.

Conference Call 
At 4:30 p.m. Eastern Time today, Audentes management will host a conference call and a simultaneous webcast to discuss its second quarter 2019 financial results and provide a corporate update.  To access a live webcast of the conference call, please visit the Events & Presentations page within the Investors + Media section of the Audentes website at  Alternatively, please call (833) 659-8620 (U.S.) or (409) 767-9247 (international) and dial the conference ID# 4244738 to access the call.

A replay of the webcast will be available on the Audentes website for approximately 30 days.

About Audentes Therapeutics, Inc.
Audentes Therapeutics (Nasdaq: BOLD) is a leading AAV-based genetic medicines company focused on developing and commercializing innovative products for serious rare neuromuscular diseases.  We are leveraging our AAV gene therapy technology platform and proprietary manufacturing expertise to develop programs across three modalities: gene replacement, vectorized exon skipping, and vectorized RNA knockdown.  Our product candidates are showing promising therapeutic profiles in clinical and preclinical studies across a range of neuromuscular diseases. Audentes is a focused, experienced and passionate team driven by the goal of improving the lives of patients.

For more information regarding Audentes, please visit

Forward Looking Statements 
This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to the expected benefits of the company's product candidates and technology platform, the timing and nature of the company's research, development and manufacturing activities, the timing and nature of availability and release of the company's clinical data results, the timing of regulatory filings for AT132, AT845, AT702, and AT466, the timing of patient dosing for AT702, the timing for patient enrollment in the ASPIRO pivotal expansion and the potential penetration into the DMD and DM1 markets.  All statements other than statements of historical fact are statements that could be deemed forward-looking statements. Although the company believes that the expectations reflected in such forward-looking statements are reasonable, the company cannot guarantee future events, results, actions, levels of activity, performance or achievements, and the timing and results of biotechnology development and potential regulatory approval is inherently uncertain. Forward-looking statements are subject to risks and uncertainties that may cause the company's actual activities or results to differ significantly from those expressed in any forward-looking statement, including risks and uncertainties related to the company's ability to advance its product candidates, obtain regulatory approval of and ultimately commercialize its product candidates, the timing and results of preclinical and clinical trials, the company's ability to fund development activities and achieve development goals, establish and scale-up manufacturing processes that comply with regulatory requirements, and protect intellectual property and other risks and uncertainties described under the heading "Risk Factors" in documents the company files from time to time with the Securities and Exchange Commission. These forward-looking statements speak only as of the date of this press release, and the company undertakes no obligation to revise or update any forward-looking statements to reflect events or circumstances after the date hereof.

For more on Audentes Therapeutics’ financials, please read more here.

Industry Partner News: Roche/Genentech Program Update Letter to Duchenne Community


Dear Duchenne community,

It was wonderful to see many members of the community at the Parent Project Muscular Dystrophy (PPMD) Conference at the end of June in Orlando, Florida, USA. At the conference, on 29 June 2019, we provided an update on the Roche/Genentech anti-myostatin (RG6206) clinical program. RG6206 is an adnectin fusion protein designed to bind to a protein called myostatin and potentially inhibit its function. RG6206 is currently under investigation to evaluate its efficacy, safety and tolerability in ambulatory boys with Duchenne Muscular Dystrophy. With this letter, we are pleased to update the broader community. 

As of 3rd July 2019, enrollment in the WN40227 (SPITFIRE) pivotal study has been officially completed globally at 48 sites across the US, Canada, Argentina, Europe, Australia and Japan. A total of 166 boys with Duchenne between the ages of 6 and 11 were randomized. The list of clinical sites as well as study details can be found at (reference NCT03039686, Roche study WN40227). 

As with all our clinical research programs, we continue to monitor our studies to confirm they should continue as planned; as such, we will be reviewing the ongoing SPITFIRE study in October-November of this year. This review is specified per the study protocol and is not prompted by any event or monitoring trends. We will update the community after the review is complete. 

As the study is an ongoing placebo-controlled trial, it is important the study remain blind to preserve its integrity. As long as the study is continuing, no data can be shared. 

We are sincerely grateful for the continuous partnership of the Duchenne community and would like to thank all of our study participants and their families and caregivers. Roche/Genentech is committed to working together with the Duchenne community to support the evolving needs of patients and their families. 

  • If you have any questions regarding your ongoing participation in the SPITFIRE study, please contact your study physician.

  • For more information on the ongoing SPITFIRE study please reach out to us via e-mail at or by phone at +1 888 662 6728.

Elena Zhuravleva, Patient Director, Rare Disease, Roche, Switzerland

On behalf of the Roche/ Genentech Duchenne team

For more information on Roche/ Genentech and RG6206, please visit their website at

Industry Partner News: Capricor Therapeutics Announces Positive Results from its Interim Analysis in the HOPE-2 Trial

Capricor Graphic.png

Dear Duchenne Community,


Capricor Therapeutic s (NASDAQ: CAPR) a clinical-stage biotechnology company, today announced that a pre-specified interim analysis performed on 6-month data from the HOPE-2 trial showed statistically significant results across several independent clinical measures.

“I am incredibly pleased with the outcome of the interim analysis as it has demonstrated the biologic activity of CAP-1002 that has resulted in changes of clinically relevant outcomes including the upper limb, the hand and diaphragmatic function,” said Craig McDonald, M.D., the national principal investigator for the HOPE-2 clinical trial and University of California, Davis professor and chair of its Department of Physical Medicine and Rehabilitation. “For these older boys who have no further therapeutic options, these data support the hope that CAP-1002 may one day become an important therapeutic option and possibly slow the advancement of the disease."

HOPE-2 is a randomized, double-blind, placebo-controlled, Phase II clinical trial of the company’s lead investigational therapy, CAP-1002, in steroid-treated boys and young men who are in advanced stages of Duchenne muscular dystrophy (DMD), a debilitating genetic disorder. DMD is characterized by progressive weakness and chronic inflammation of the skeletal, heart and respiratory muscles. Study patients were treated via intravenous delivery with either CAP-1002 (150 million cells per infusion) or placebo every 3 months.

In the interim analysis, top-line data from a total of 17 patients was analyzed in the per protocol population (10 placebo and 7 treated) at the 3 month time-point and 12 patients (6 placebo and 6 treated) were analyzed at the 6 month time-point. Approximately 80% of the patients were non-ambulant. Demographic and baseline characteristics were similar between the two treatment groups.

Skeletal Assessments

To assess skeletal muscle function, investigators used the mid-level dimension of the Performance of the Upper Limb (PUL) 1.2 and 2.0 tools. The PUL evaluates manual tasks that relate to activities of daily living that are very important for quality of life. The U.S. Food and Drug Administration (FDA) has suggested the use of the updated PUL 2.0 version as the primary efficacy endpoint in support of a Biologics License Application (BLA). Positive results were seen in the PUL 1.2 version which is consistent with the positive results seen in Capricor’s HOPE-Duchenne Phase I/II clinical trial published in Neurology , the medical journal of the American Academy of Neurology. Additional independent tests assessing grip strength showed statistically significant results at 6 months and tests assessing tip to tip pinch strength showed positive results.

Pulmonary Assessments

To assess pulmonary function, investigators measured several clinically relevant parameters. At 3 months, inspiratory flow reserve (absolute), a reflection of diaphragmatic strength, showed a statistically significant improvement (p=0.0473). Additionally, positive trends were seen at 3 months in peak expiratory flow (% predicted), another measure of diaphragmatic strength.

Cardiac Assessments

Magnetic resonance imaging (MRI) was used to assess cardiac structure and function at 6 months. Positive trends were found in cardiac muscle function including systolic wall thickening and cardiac mass among those treated with CAP-1002 compared to placebo. Duchenne hearts atrophy progressively and have impaired systolic function. Improved mass and wall thickening suggest possible cardiac regeneration and functional improvement. Although these trends did not reach statistical significance, they were consistent with the cardiac findings seen in the previously published HOPE-Duchenne study.


In late December 2018, Capricor put a voluntary hold on dosing after two patients in the HOPE trials had a serious adverse event in the form of an immediate immune reaction. The investigation suggested the patient may have developed hypersensitivity to something contained in the investigational product, including an excipient or inactive ingredient in the formulation. To reduce the risk of future adverse events, Capricor initiated a commonly used pre-medication strategy including intravenous steroids and antihistamines to prevent or mitigate potential immune reactions during the administration. Since the initiation of the pre-treatment regimen, 30 infusions of investigational drug (CAP-1002 or placebo) have been administered to HOPE-2 patients with only one serious adverse event reported that required an overnight observation of the patient.


In summary, a statistically significant outcome relative to placebo controls was shown in PUL 2.0 at 6 months, with supportive, positive treatment effects also seen in some independent skeletal and pulmonary assessments. Positive trends, although not statistically significant, were observed in other skeletal, pulmonary and cardiac measures.

Although Capricor collected data from 2 treated patients at the 9 month time-point, 1 of which was at the 12 month time-point, Capricor is not able to draw any conclusions at this time with respect to this data.

“We are extremely pleased and it is truly extraordinary that even in such as small sample size, we achieved statistically significant improvements in several clinically relevant parameters. In these older patients, functional improvement in the upper limb is highly meaningful for their quality of life. To our knowledge, this is the first randomized double-blind, placebo-controlled study in DMD that has shown statistically significant functional improvement in steroid treated boys.” said Linda Marbán, president and CEO of Capricor.

To read more about the trial and the full press release, please click here.

Hope-2 Logo.png

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