Improving Rare Disease Awareness: Barry Byrne, MD, PhD

"[Rare Disease Day] is an opportunity to recognize the commitments from the research community, from the patient community, from all those stakeholders that want to try to improve the lives of patients with rare diseases.”

Monday, February 28, is international Rare Disease Day. Rare diseases affect over 300 million people worldwide with over 7,000 diseases counted as rare diseases. In recognition of the day, the National Institutes of Health hosts a Rare Disease Day conference to bring together researchers, patients, advocates and policy makers.

Gene and cell therapies are being explored in rare diseases such as Pompe disease, in which 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, FDA Cellular, Tissue, and Gene Therapies Advisory Committee, about Rare Disease Day and his related work in Pompe disease. Byrne discussed the importance of having such a day in improving disease awareness as well as the importance of patient advocacy and advocacy groups for rare diseases.