CureDuchenne’s Chief Scientific Advisor, Michael Kelly, Reports From Day One of 2018 New Direction in Biology and Disease of Skeletal Muscle Conference

CureDuchenne staff is participating in the New Direction in Biology and Disease of Skeletal Muscle Conference in New Orleans this week.  Our staff scientist, Michael Kelly, will be providing a summary of key learnings each day.  Have a question?  Leave us a comment and Michael will respond.

Jane Owens (Rare Disease Research Unit, Pfizer) provided an update on their two clinical programs targeting DMD.

• The Phase 2 myostatin antibody program (PF-06252616) is fully enrolled and the company is expected to release topline data in 2019.
• Their micro dystrophin gene therapy program is a multi-center, open-label, ascending dose study of a single intravenous infusion of PF-06939926 in ambulatory subjects. Three patients have been treated with the mini gene therapy so far and results of dystrophin expression and assessments of muscle strength etc. should be available in 2019.

Karen Lucas and Louise Rodino-Klapac (Sarepta Therapeutics) presented an update on Sarepta’s clinical programs for Duchenne. This presentation focused on the recent results reported at the company’s research day with the micro dystrophin gene therapy clinical program taking center stage. Four patients have now been treated with the micro gene at the time of writing and early results demonstrate an acceptable safety profile, widespread micro dystrophin expression with upregulation of the DAPC complex – accompanied with a significant reduction in CK levels. This is very promising early data and the progress of this program is being followed closely by the whole Duchenne community.

Irina Antonijevic (Wave Life Sciences) updated the conference on Wave’s stereopure exon 51 skipping drug (WVE-210201) for the treatment of DMD. The Phase 1 study has now started and is expected to recruit 40 ambulatory or non-ambulatory patients (5 to 18 years old) in the multicenter study. Initial results examining safety and tolerability are expected in 2018. Link to clinical trial: https://clinicaltrials.gov/ct2/show/NCT03508947?term=wave&cond=DMD&rank=1 Their second exon skipping program targets exon 53 and is expected to begin clinical studies in 2019.