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

Video

The director of the Powell Gene Therapy Center at the University of Florida discussed unmet needs that remain in Pompe disease.

“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.

Recent Videos
Haydar Frangoul, MD, the medical director of pediatric hematology/oncology at Sarah Cannon Research Institute and Pediatric Transplant and Cellular Therapy Program at TriStar Centennial
David Barrett, JD, the chief executive officer of ASGCT
Georg Schett, MD, vice president research and chair of internal medicine at the University of Erlangen – Nuremberg
David Barrett, JD, the chief executive officer of ASGCT
Bhagirathbhai R. Dholaria, MD, an associate professor of medicine in malignant hematology & stem cell transplantation at Vanderbilt University Medical Center
Caroline Diorio, MD, FRCPC, FAAP, an attending physician at the Cancer Center at Children's Hospital of Philadelphia
R. Nolan Townsend; Sandi See Tai, MD; Kim G. Johnson, MD
Daniela van Eickels, MD, PhD, MPH, the vice president and head of medical affairs for Bristol Myers Squibb’s Cell Therapy Organization
Paul Melmeyer, MPP, the executive vice president of public policy & advocacy at MDA
© 2024 MJH Life Sciences

All rights reserved.