Welcome to FALL

Time flies! Over the past few months, we have seen a number of announcements regarding drug development, changes to clinical trials, and new trials opening or on the horizon. For many, it feels nearly impossible to keep up with everything that has occurred so we have put together a recap of research updates.

In September, the 2021 World Muscle Society conference was held virtually. This meeting is the largest and most well-attended meeting for the muscular dystrophies, bringing together members of academia, clinicians, industry, investors, foundations and others to share new knowledge and advances in research across neuromuscular diseases.

Some highlights from that meeting include:

• Sarepta shared updates from their clinical trial of SRP-5051, a peptide conjugated PMO, (AKA PPMO), skipping exon 51. At 12 weeks, their high dose (30 mg/kg of SRP-5051) delivered one time/month resulted in 18 times the exon skipping and eight times the dystrophin production compared to eteplirsen dosed weekly for 24 weeks. Sarepta also shared they would begin initiation of Part B for the MOMENTUM study enrolling between 20 and 40 patients from ages 7 to 21, amenable to exon 51 skipping who are naïve to SRP-5051.
• Solid Biosciences shared an update on 3 patients in their IGNITE-DMD trial for SGT-001, their micro-dystrophin gene therapy trial. They presented functional data at 1.5 years post-delivery, showing their NSAA had only minimal changes when compared to baseline. Other outcome measures included the 6MWT with distances that were maintained compared to baseline. The Forced Vital Capacity (FVC) for pulmonary function was stable or improved. Overall, the stability was favorable when compared to natural history over a similar time span.
• Capricor presented final data from their Phase 2 trial, HOPE-2, using their investigational product CAP-1002. The HOPE-2 clinical trial met its primary efficacy endpoint of Performance of the Upper Limb, the mid- PUL, version 1.2 as well as various skeletal and cardiac endpoints which suggest a clinically relevant slowing of disease progression. Based on the positive results, Capricor hopes to embark on a pivotal Phase 3 trial.

In addition, there have been a number updates to clinical trials since the end of September through October:

• Wave Lifesciences has announced the initiation of dosing in a Phase 1b/2a clinical trial expecting to enroll 15 boys, evaluating investigational WVE-N531 as a treatment for boys with Duchenne muscular dystrophy (DMD) who are amenable to exon 53 skipping. At this time the trial only has sites in the UK and Canada, with the possibility of expanding depending on progress of the study.
• ReveraGen and Santhera announced they have been awarded a $1.2 million grant from the FDA to investigate the use of Vamorolone in Becker patients. They will look to initiate a 24-week double blind, placebo-controlled study at two sites, Padova (Italy) and Pittsburgh (USA).
• In the ongoing gene and planned gene therapy trials for Pfizer and Sarepta for their respective investigational gene therapy products we saw the announcement of changes to their inclusion criteria. The changes are mutation specific restrictions and based on several reported serious adverse events (SAE).
• Pfizer’s Phase 3 trial of their gene therapy product (fordadistrogene movaparvovec) is ongoing, but will exclude patients with mutations (exon deletion, exon duplication, insertion, or point mutation) affecting exons 9 through 13, inclusive, or a deletion that affects both exon 29 and exon 30. US sites have not yet opened up for recruitment for the Phase 3.
• Sarepta shared that for their upcoming Phase 3 EMBARK study of SRP-9001 there will be an exclusion of individuals with mutations between or including exons 1-17 or with mutations fully contained within exon 45. PPMD hosted a webinar with Sarepta to further discuss the EMBARK trial: Watch here.

Duchenne and Becker research continues to progress.  As sponsors continue to share new data, announce trials and open enrollment PPMD will be sure to keep you informed. We know TIME means everything to you and your families. We intend to keep you informed and up-to-date, and remain deeply grateful to be part of this community.

For questions about clinical trials please contact one of our Certified Genetic Counselors, who can talk to you about your child, the research options, and the inclusion criteria.