• Interview with Dwight Koeberl, MD, PhD at Duke University
• Early results from Actus-101 phase 1/2 study (AAV2/8-LSPhGAA in Late-Onset Pompe Disease)
• First three people enrolled
• Have participated in 24 weeks of the study
• Results from low-dose branch
• No serious adverse events
• All three patients met efficacy goals and have now stopped ERT infusions entirely
• Clinical Trial Website
  • https://clinicaltrials.gov/ct2/show/NCT03533673
• Asklepios BioPharmaceutical
  • http://www.askbio.com

My Take:

This is really great news. The results are very preliminary, but the fact that all three study participants were able to quit ERT infusions at 24 weeks is potentially life-changing for thousands of people with Pompe. At this point in the study, it’s really the best news we could hope for at this early time.

There’s nothing negative about this interview, but there is certainly a lot riding on this trial. Many Pompe Disease patients are hopeful it will offer a “cure” for Pompe and possibly even reduce some symptoms that Myozyme/Lumizyme are typically not able to improve significantly (brain symptoms, for example).

Although many hope this will be something of a “silver bullet”. There are other gene therapy trials in the Pompe Disease treatment pipeline. Audentes Therapeutics in late July 2020 began recruiting patients for their gene therapy trial known as FORTIS.

Video via checkrare.com: