New Findings Emerge About Musculoskeletal Aspects in Barth Syndrome
Important results have emerged from the 2016 and 2018 BSF International Scientific, Medical & Family Conferences: Individuals with Barth syndrome have decreased functional exercise capacity, knee extensor strength, and physical activity in comparison to unaffected individuals. Hilary Vernon, MD, PhD, and other members of the Barth Syndrome Clinic at the Kennedy Krieger Institute in Baltimore, MD, published their findings in the article, “Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome,” in Orphanet Journal of Rare Diseases. Importantly, the authors also demonstrated that the 6-minute walk test (MWT) continues to be a reliable quantitative measure of therapeutic outcomes in clinical studies and for clinical monitoring.
Interested in finding out more about clinical trials?
Clinical trials to investigate drugs and devices to treat rare diseases have unique challenges. They are critically important to advance potential therapies ultimately into the hands of affected individuals, but as in the case of Barth syndrome, affected individuals are often scattered geographically around the world. Cristy Balcells, former Executive Director of MitoAction, and James Valentine, former Patient Liaison at the FDA, recently highlighted the impact and importance of people with rare diseases as partners in the clinical trial process. If you missed the webinar that BSF helped to co-host, you can watch or listen to the recording here: