Sustained functional improvement with micro-dystrophin gene treatment

Sarepta Therapeutics reports sustained functional improvement two years after treatment with SRP-9001, its investigational micro-dystrophin gene therapy for Duchenne muscular dystrophy.

  • Results demonstrate continued safety and tolerability of SRP-9001 in four participants with Duchenne.
  • All four participants demonstrated improvements in The North Star Ambulatory Assessment (NSAA)* scores than baseline and showed a durable response two years after the administration of SRP-9001.

Original press release > CAMBRIDGE, Mass., Sept. 28, 2020 (GLOBE NEWSWIRE)

Sarepta Therapeutics, Inc., announced two-year follow up results from four Duchenne muscular dystrophy (DMD) clinical trial participants who received SRP-9001. SRP-9001 is an investigational gene transfer therapy intended to deliver its micro-dystrophin-encoding gene to muscle tissue for the targeted production of micro-dystrophin protein. Results presented at the 25th International Annual Congress of the World Muscle Society demonstrated that two years after a one-time infusion of SRP-9001, trial participants exhibited a mean 7.0 point improvement on the North Star Ambulatory Assessment (NSAA) compared to baseline.


Doug Ingram, President and CEO, Sarepta – “We continue to be encouraged by the safety profile and enduring treatment response that we have seen to date with SRP-9001 gene transfer therapy. The consistent results and functional improvements sustained over two years give us added confidence as we prepare for the results from Study 102, our randomized, double-blind, placebo-controlled study of SRP-9001. We continue to work with urgency to bring this potentially transformative treatment to patients as quickly as possible.”


In the open-label trial, known as Study 101, four ambulatory participants between the ages of 4 and 7 were treated with an infusion of SRP-9001. The therapy was well-tolerated in all participants over the two years. All adverse events were considered mild or moderate and occurred within 90 days of treatment. There were no serious adverse events or evidence of complement activation.

At day 90, all participants had confirmed vector transduction and showed functional improvement on the NSAA scale and reduced creatine kinase (CK) levels. Participants demonstrated a mean increase of 5.5 points from baseline one year after treatment and 7.0 points from baseline two years after treatment. The NSAA is a validated scale developed to measure functional motor abilities in ambulant children with Duchenne, with scores ranging from 0-34.

As previously disclosed, micro-dystrophin protein levels for participants in Study 101 were as follows: 12-weeks post-infusion, a mean of 81.2% muscle fibres expressing micro-dystrophin with a mean intensity at the sarcolemma by immunohistochemistry of 96% compared to normal biopsies. Adjusted for fat and fibrotic tissue, western blot showed a mean expression of 95.8%.

About SRP-9001

SRP-9001 is an investigational gene transfer therapy intended to deliver the micro-dystrophin-encoding gene to muscle tissue for the targeted production of the micro-dystrophin protein. Sarepta is responsible for global development and manufacturing for SRP-9001 and plans to commercialize SRP-9001 in the United States. In December 2019, the Company announced a licensing agreement granting Roche the exclusive right to launch and commercialize SRP-9001 outside the United States. Sarepta has exclusive rights to the micro-dystrophin gene therapy program initially developed at the Abigail Wexner Research Institute at Nationwide Children’s Hospital.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare, fatal neuromuscular genetic disease in approximately one in every 3,500-5,000 males worldwide. DMD is caused by a change or mutation in the gene that encodes instructions for dystrophin. Symptoms of DMD usually appear in infants and toddlers. Affected children may experience developmental delays such as difficulty in walking, climbing stairs or standing from a sitting position. As the disease progresses, muscle weakness in the lower limbs spreads to the arms, neck and other areas. Most patients require full-time use of a wheelchair in their early teens and then progressively lose the ability to independently perform activities of daily living such as using the restroom, bathing and feeding. Eventually, increasing difficulty in breathing due to respiratory muscle dysfunction requires ventilation support, and cardiac dysfunction can lead to heart failure. The condition is universally fatal, and patients usually succumb to the disease in their twenties.

About Sarepta Therapeutics

Sarepta Therapeutics, Inc., a biopharmaceutical company, is working to unlock the potential of RNA-based and gene therapy technologies to treat severe and life-threatening diseases like Duchenne muscular dystrophy (DMD). Sarepta’s primary focus is to advance new therapies for DMD rapidly. Learn more here.

La Force DMD / Sarepta Therapeutics / Grounded in the DMD community.

The North Star Ambulatory Assessment (NSAA)

The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD). It is usually used to monitor the progression of the disease and treatment effects.

Catabasis Newsletter – Communicating clinical trial results

La Force is happy to share the latest edition of the Catabasis Connection newsletter – Communicating clinical trial results.

Catabasis understands the importance of clearly communicating clinical trial results with the Duchenne community. As they are getting prepared for the planned release of top-line results from their Phase 3 PolarisDMD trial in Q4 of this year, they are sharing in advance their plans for how those results will be communicated. As a public, pre-commercial stage company, Catabasis is making every effort to balance its reporting obligations and restrictions with the desire to inform the Duchenne community of the trial results quickly, efficiently, and in easily accessible ways. Here are their plans:

  • They will share top-line results in their newsletter and a press release simultaneously. You can sign up here.
  • They will be sharing both the newsletter and press releases on their social media. You can follow them on social media > FacebookTwitter and Instagram.
  • They will host a webinar for the Duchenne community in conjunction with PPMD within a couple of days of the release of the top-line results. The webinar will include a Q&A portion where you can ask questions.
  • Families participating in the Phase 3 PolarisDMD trial can hear about the next steps directly from their trial site personnel.

About Edalasolexent

Edasalonexent is an orally-administered small molecule designed to inhibit NF-kB. Activated NF-kB is a crucial link between the lack of dystrophin and resulting manifestation and progression of Duchenne. By inhibiting NF-kB in Duchenne, edasalonexent can limit muscle degeneration, promote muscle regeneration, and reduce inflammation and fibrosis. Edasalonexent is being developed as a monotherapy and for use with other therapies, such as exon-skipping. We believe that based on its mechanism of action, edasalonexent has the potential for use with different approaches in development, such as gene therapy. The Phase 3 PolarisDMD trial and GalaxyDMD open-label extension trial are both ongoing. Top-line results are expected in the fourth quarter of 2020.

About Catabasis

The mission of Catabasis Pharmaceuticals is to bring hope and life-changing therapies to patients and their families. There lead program is edasalonexent, an NF-kB inhibitor in Phase 3 development for the treatment of Duchenne muscular dystrophy. For more information on edasalonexent and the Phase 3 trial, please visit www.catabasis.com.

About La Force DMD

The Force’s mission is to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to participate in the funding of promising research projects. Where access to treatments for rare diseases is concerned, it is essential that our community be strong: each member must be an active spokesperson who helps raise awareness for DMD among the general public and the challenges associated with access to treatment.


Edasalonexent is an investigational drug that is not yet approved in any territory.


Worldwide rights of Vamorolone for DMD

Santhera exercises option to obtain worldwide rights of Vamorolone for Duchenne muscular dystrophy (DMD) and All Other Indications

La Force is happy to share this press release provided by Santhera Pharmaceuticals > Pratteln, Switzerland, and Rockville, MD, USA, September 2, 2020


Santhera Pharmaceuticals announces that it has signed agreements with Idorsia and ReveraGen BioPharma Inc., making Santhera a direct license holder of vamorolone. Under the agreements, Santhera has obtained an exclusive license from ReveraGen, the originator of vamorolone, for all indications worldwide. The agreements create additional value for Santhera through the transfer of rights for the previously excluded markets Japan and South Korea, the right to grant sublicenses and a share in the expected Priority Review Voucher. Vamorolone, a first-in-class anti-inflammatory drug candidate with a novel mode of action, is currently being investigated in the pivotal Phase 2b VISION-DMD study in patients with Duchenne muscular dystrophy (DMD) by originator ReveraGen and completion of study enrollment is expected shortly.



  • The license gives Santhera worldwide rights to vamorolone, now also including the major markets Japan and South Korea, and paves the way for partnering in additional indications
  • Agreements with Idorsia and ReveraGen give Santhera immediate control over vamorolone and defer milestone-related payments
  • The transaction establishes Santhera as a leading company in rare neuromuscular diseases with two late-stage assets addressing the medical need of DMD patients from early to late disease stages


Dario Eklund, Chief Executive Officer of Santhera –  “We are excited about the license transfer of vamorolone to Santhera. Our decision to exercise the option now has been driven by a combination of factors including the availability of encouraging clinical efficacy and safety data with vamorolone, enhanced deal terms and the ability to gain full control over the asset. We look forward to contributing our significant expertise to advancing vamorolone in DMD and exploring additional business development opportunities. We believe that having two promising, complementary, late-stage assets for DMD in our pipeline will enable increased access to potentially transformative treatments for a wider patient population. We are grateful to Idorsia, our anchor shareholder, for enabling early access to the license, highlighting its confidence in Santhera as the best-suited company to bring vamorolone to patients.”


Eric Hoffman, Ph.D., Vice President of Research of ReveraGen BioPharma –  “We are delighted about the revised contractual arrangement and being able to work directly with Santhera as the licensee for vamorolone. Santhera’s experience in both development of DMD drug candidates and the commercialization of a rare disease product positions it well to bring vamorolone to patients. Our work to date clearly shows that vamorolone not only holds the potential to become a new standard of care for patients with DMD but also could benefit patients in a number of other inflammatory diseases.”


With Puldysa® and vamorolone, Santhera is building a complementary DMD product portfolio.

Vamorolone is in development for young DMD patients requiring an anti-inflammatory, muscle strengthening treatment before the onset of respiratory function decline. Based on the cumulative knowledge obtained from extensive non-clinical studies and Phase 1 and Phase 2a clinical studies with vamorolone, ReveraGen is currently conducting the pivotal Phase 2b VISION-DMD trial and anticipates full study enrollment shortly. Subject to positive results of the first 6-month treatment period, now expected in the second quarter of 2021 due to delays caused by the Covid-19 pandemic, this would pave the way for regulatory submission to the US FDA in the fourth quarter of 2021.

Puldysa (idebenone) for patients with DMD in respiratory function decline who are not taking glucocorticoids is currently under regulatory review in Europe for which Santhera anticipates a CHMP opinion in the fourth quarter of 2020. The Company expects the combination of vamorolone and Puldysa to address the medical needs of DMD patients, from early to late disease stages, irrespective of age, underlying dystrophin mutation or ambulatory status. 

Vamorolone and Puldysa have been granted Orphan Drug status in the US and Europe, Fast Track and Rare Pediatric Disease designations by the US FDA and Promising Innovative Medicine (PIM) status by the UK MHRA. In the UK, Puldysa is available to patients through the Early Access to Medicines Scheme (EAMS).


About Vamorolone

Vamorolone is a first-in-class anti-inflammatory drug candidate with a novel mode of action Vamorolone is a first-in-class drug candidate that binds to the same receptors as corticosteroids but modifies the downstream activity of the receptors. This has the potential to ‘dissociate’ efficacy from typical steroid safety concerns and, therefore, could emerge as a valuable alternative to corticosteroids, the current standard of care in children and adolescent patients with DMD. There is a clear unmet medical need in this patient group as high dose corticosteroids have significant systemic side effects that detract from the patient’s quality of life. Vamorolone is being developed by US-based ReveraGen BioPharma Inc. with participation in funding and design of studies by several international non-profit foundations, the US National Institutes of Health, the US Department of Defense and the European Commission’s Horizon 2020 program.


About Santhera

Santhera Pharmaceuticals is a Swiss specialty pharmaceutical company focused on the development and commercialization of innovative medicines for rare neuromuscular and pulmonary diseases with a high unmet medical need. Santhera is building Duchenne muscular dystrophy (DMD) product portfolio to treat patients irrespective of causative mutations, disease stage or age. A marketing authorization application for Puldysa® (idebenone) is currently under review by the European Medicines Agency. Santhera has an option to license vamorolone; a first-in-class dissociative steroid presently investigated in a pivotal study in patients with DMD to replace standard corticosteroids. Santhera out-licensed ex-North American rights to its first approved product; for further information, please visit www.santhera.com.


About ReveraGen BioPharma

ReveraGen was founded in 2008 to develop first-in-class dissociative steroidal drugs for Duchenne muscular dystrophy and other chronic inflammatory disorders. The development of ReveraGen’s lead compound, vamorolone, has been supported through partnerships with foundations worldwide, including Muscular Dystrophy Association USAParent Project Muscular DystrophyFoundation to Eradicate DuchenneSave Our SonsJoiningJackAction DuchenneCureDuchenne, Ryan’s Quest, Alex’s WishDuchenneUK, Pietro’s Fight, Michael’s Cause, and Duchenne Research Fund. ReveraGen has also received generous support from the US Department of Defense CDMRP, National Institutes of Health (NCATS, NINDS, NIAMS), and European Commission (Horizons 2020).


More links

Virtual marathon for DMD

Learning that your son has Duchenne muscular dystrophy (DMD) is watching your child lose his muscular ability month after month. This is Jean-Philippe Morand’s reality: his son Victor is stricken with Duchenne muscular dystrophy. In adversity, some men go beyond their limits, and this is what Jean-Philippe will do again on Saturday, September 12, by participating in the 124th Boston Marathon in the company of his two sons Victor and Vincent. They are on a mission to raise awareness about Duchenne. Every effort to raise awareness about this rare and devastating disease will help us facilitate access to new treatments. Victor will accompany Jean-Philippe in a racing chair.


Jean-Philippe Morand – « For 5 years since I started running, in order to bring this sport to life for my son, Victor, who has Duchenne muscular dystrophy. It must be said that I am more of a cyclist at the base! Several races and marathons including the one in May 2019 where I qualified for Boston 2020. I had to go run it alone in April 2020 because Victor is not of the required age, but the Boston edition has been converted into an edition virtual and will be held on September 12th.
I will therefore have the pleasure of running the 124th edition of the Boston Marathon with Victor on September 12th. The Clan Morand is Victor and me, but also Vincent who will be my official “rabbit pacer” on the bike.
I invite you to come and cheer us on Saturday, September 12th, come run or roll km with us. »


124th Boston Marathon to be Held Virtually

The Boston Athletic Association (BAA) has announced that the 124th Boston Marathon will be held as a virtual event, following Boston Mayor Martin Walsh’s cancellation of the marathon as a mass participation road running event due to the COVID-19 pandemic. The virtual Boston Marathon will be complemented by a series of virtual events throughout the second week of September. [ Read more here ]


Victor was diagnosed with Duchenne

DMD is an incurable and 100% fatal disease. Duchenne muscular dystrophy is a rare genetic disorder that mainly affects boys. The progression of DMD is unforgiving: the body’s muscles gradually weaken, leaving the boys in a wheelchair at the age of 12, with a life expectancy of 20 to 30 years. Today there is hope for DMD, and several new treatments are on the horizon.


Raising funds and awareness to access new treatments

Within the next 5 to 10 years (or even before then), some new treatment options should be on their way to completion. Now, treatments are approved in the US and Europe, but not yet available in Canada. Therefore, educating people about what Duchenne is and about access to new therapies is extremely important. It will help children like Victor access the latest treatments rapidly before the disease has evolved too much.


Please support them

There’s nothing better than a father’s courage to raise awareness about Duchenne muscular dystrophy. Today there is hope for DMD, and several new treatments are on the horizon. This hope motivates Jean-Philippe to go beyond his limits for his son, but what he does also benefit all children with DMD. Le Clan Morand invites you to donate $ 10 / KM run with them. [ here ]

The La Force DMD team is proud to support Jean-Philippe Morand and his family.


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