Jeffrey Chamberlain, PhD

A panelist discusses how DMD progression affects different muscle groups over time, with the most serious complications involving respiratory and cardiac muscles, necessitating specialized care from pulmonologists and cardiologists.

A panelist discusses how ongoing research into next-generation DMD therapies aims to improve delivery methods, develop better vectors that can carry larger dystrophin genes, and determine optimal treatment timing, with evidence suggesting earlier intervention may be more effective.

A panelist discusses how older patients with DMD might benefit from newer genetic therapies including gene therapy and exon skipping, though eligibility depends on specific mutations and absence of pre-existing immunity to AAV vectors.

A panelist discusses how a 16-year-old patient with DMD shows more rapid disease progression despite early steroid treatment, with early onset cardiac issues, scoliosis, and increasing upper limb weakness requiring comprehensive specialist care.

A panelist discusses how comprehensive care for patients with DMD involves early diagnosis, steroid treatment, consideration of mutation-specific therapies like exon skipping or gene therapy, and consistent monitoring by a multidisciplinary clinical team.

A panelist discusses how gene therapy using microdystrophin delivered through AAV vectors shows promise for DMD treatment, though challenges remain with delivery efficiency and determining which patients will benefit most.

A panelist discusses how even very small amounts of dystrophin (as low as 1%) may slow disease progression in skeletal muscles, although the impact on cardiac and respiratory function remains less clear.

A panelist discusses how DMD is caused genetically through mutations in the dystrophin gene, with approximately one-third of cases arising from spontaneous new mutations rather than inherited from carrier parents.

A panelist discusses how steroid use in DMD patients provides significant benefits in delaying disease progression, particularly loss of ambulation, despite potential side effects including mood disorders, bone weakness, and weight gain.

A panelist discusses how a 13-year-old DMD patient with exon 51 mutation who has been on prednisone since diagnosis is transitioning to wheelchair use while maintaining upper limb function.