Duygu Selcen, M.D.

The purpose of this study is to use the candidate gene approach to find the cause of the neuromuscular disease, determine mechanisms by which mutant genes causes the neuromuscular disease, and to use this information to generate structure-function correlations and, if possible, devise strategies for therapy.

The expanded access program will provide access to treatment with deflazacort in children, adolescent, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study examining the efficacy of deflazacort while a new drug application is under preparation and review. Enrollment is open to all eligible patients.

A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S. Package Insert (USPI) in adult and pediatric participants with spinal muscular atrophy (SMA). In this study, participants will be followed for up to 5 years from enrollment or until withdrawal of consent, loss to follow-up, or death.

The purpose of this study is to investigate 2 dose regimens in pediatric subjects 2 to < 17 years of age with confirmed or possible Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP), either previously exposed to intravenous immunoglobulin (IVIG) treatment or unexposed to IVIG treatment.