Jeffrey Chamberlain, PhD

A panelist discusses how comprehensive care for DMD patients 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.