Report of first DMD female successfully treated with Delandistrogene moxeparvovec


Topic:

Clinical Management

Poster Number: 70 S

Author(s):

Robert Lopez-Alberola, M.D., MD, University of Miami School of Medicine, escalante sheri, PA, university of miami school of medicine, adriana lopez, OTR, university of miami school of medicine, gober joslyn, DO, university of miami school of medicine

Herein we report the case of a 16 year old young lady, symptomatic with Duchenne muscular dystrophy (DMD), with exon 45-52 duplication, as well as a chromosome Xq28 microdeletion, with suspected X-inactivation given her presentation, starting to show symptoms at 6 years of age, comparable to affected males in her family, with proximal muscle weakness and a creatine phosphokinase (CPK) of 36, 925, who 12 months ago received Delandistrogene moxeparvovec, micro-dystrophin gene therapy. She experienced worsening gait since 12 years of age, with frequent falls and easily fatiguing, who since 14 years of age was needing a wheelchair for school and longer distances. At time of infusion, was still ambulatory but only for short distances, obtaining 24/34 on the North Star Ambulatory Assessment (NSAA), which 5 months post infusion increased to 27/34, and 8 months after was able to perform the 6 Minute Walk Test, ambulating 963.6 feet (a motor task she was not able to perform since 12 years of age, at that time only able to walk 114 feet). Infusion was well tolerated, with no side effects or complications, and patient continues to make motor progress. Therefore, micro-dystrophin gene therapy is a viable treatment option for symptomatic DMD females.