Research Needs in Pompe Disease: Barry Byrne, MD, PhD

“An ongoing challenge is to get these registries and natural history data sets to be robust and reliable. But that's something that I think a lot of people in this community of rare disease patients understand. It's invaluable for them to participate.”

While international Rare Disease Day has come and gone, there is still more work that needs to be done in improving awareness and addressing unmet needs in rare diseases such as Pompe disease.

Gene and cell therapies are being investigated as a single-dose alternative to enzyme replacement therapy. Current studies investigating gene therapies in this space include the phase 1/2 RESOLUTE study (NCT04093349) of SPK-3006 as well multiple studies from the University of Florida’s Powell Center for Gene Therapy.

CGTLive spoke with Barry Byrne, MD, PhD, director, Powell Center for Gene Therapy, University of Florida, and advisory committee member, Muscular Dystrophy Association, about unmet needs in Pompe disease. He discussed further research that he would like to see conducted within the space, including natural history studies.