Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a major therapeutic focus, including studies in ambulatory and non-ambulatory populations and in patients with genotypes amenable to exon skipping approaches. The research portfolio includes work on eteplirsen, vesleteplirsen, and delandistrogene moxeparvovec for muscle function, dystrophin expression, and long-term safety.
- Duchenne muscular dystrophy (DMD)
- Exon 45 skipping and exon 53 skipping
- Dystrophin restoration
- Motor function and ambulation
Clinical activity also includes follow-up and treatment evaluation in patients with pre-existing AAV antibodies, reflecting interest in gene transfer therapy for broader DMD populations.
Limb-Girdle Muscular Dystrophy
Research in limb-girdle muscular dystrophy centers on LGMD2E/R4, also known as β-sarcoglycanopathy, with attention to gene delivery and restoration of β-sarcoglycan expression in skeletal muscle.
- LGMD2E/R4
- β-sarcoglycanopathy
- β-sarcoglycan expression
- Skeletal muscle gene delivery
The portfolio reflects a focus on inherited muscle disease subtypes with distinct molecular defects and measurable protein replacement endpoints.
Facioscapulohumeral Muscular Dystrophy
In facioscapulohumeral muscular dystrophy, the sponsor supports research targeting FSHD type 1 with emphasis on DUX4-related disease biology and treatment effects on muscle performance.
- FSHD1
- DUX4 inhibition
- Upper limb function
- Muscle weakness
These studies address a neuromuscular disorder with prominent involvement of shoulder girdle and upper extremity muscles.
Myotonic Dystrophy Type 1
Clinical research in type 1 myotonic dystrophy focuses on ARO-DM1 and the underlying molecular mechanisms associated with disease expression, with evaluation of safety, tolerability, and effects on the disorder’s neuromuscular manifestations.
- Myotonic dystrophy type 1 (DM1)
- RNA-targeted therapy
- Neuromuscular impairment
- Pharmacodynamics
This area extends the sponsor’s interest beyond dystrophinopathies into multisystem inherited muscle disease.
