- Duchenne muscular dystrophy (DMD) is a rare and severe disorder that affects primarily young boys. It begins with progressive muscle weakness that evolves to loss of ambulation and further progresses to early morbidity and mortality.
- DMD is caused by a mutation of the dystrophin gene that results in a lack of dystrophin, a protein that is necessary for muscle cell function.
- The mainstays of current therapy to treat DMD are corticosteroids and assistive devices.
- This bulletin focuses on new and emerging drugs for DMD with completed phase IIb or phase III trials and includes ataluren (nonsense mutation suppression), eteplirsen (exon 51 skipping), and idebenone (adenosine triphosphate [ATP] modulation). Ezutromid (utrophin modulation) and givinostat (histone deacetylase inhibition) are in early stages of development.
- The evidence reviewed showed that, while these drugs increased the production of new dystrophin, they generally had limited impact on ambulation and physical function.
Keywords: Duchenne Muscular Dystrophy; rare diseases, genetic diseases, gene therapies, ataluren, eteplirsen, idebenone, ezutromid, givinostat