Experimental treatments for muscular dystrophy
There is no cure for muscular dystrophy (MD) yet, but several treatments and therapies are under development to help manage the symptoms, improve patients’ quality of life, and even treat the underlying cause of the disease.
Exon-skipping therapies
Exon skipping is a treatment approach for people whose Duchenne muscular dystrophy is due to certain mutations in its causative gene. Exon skipping works like a molecular patch, so that the DMD gene can produce a shorter version of the dystrophin protein to help protect and maintain the strength of muscle fibers.
SRP-5051
SRP-5051 is an experimental therapy for people with Duchenne muscular dystrophy whose mutations are amenable to exon 51 skipping. It is being developed to slow disease progression and raise dystrophin protein levels. In clinical trials, SRP-5051 is being given via intravenous infusion.
Gene therapy
Gene therapy is a promising treatment option for genetic conditions such as muscular dystrophy. It involves correcting the genetic defect by introducing a normal copy of the affected gene into the patient’s cell or by silencing a faulty gene. Harmless modified viruses are commonly used for the targeted delivery of healthy genes into the body. The adeno-associated virus (AAV) is one such delivery vector, and several AAV-mediated gene therapy candidates are currently being evaluated as potential treatments for muscular dystrophy.
GALGT2
GALGT2 is a potential gene therapy being developed for Duchenne MD. It uses AAVs to deliver the GALGT2 gene to the body. The GALGT2 gene provides instructions to build a protein that increases the production of other proteins essential for muscle function. A Phase 1/2 trial assessing the safety and efficacy of the experimental gene therapy is ongoing.
SRP-9003
SRP-9003 is a gene therapy candidate for the treatment of limb-girdle muscular dystrophy type 2E. It is aimed at restoring the levels of beta-sarcoglycan in muscle tissues by delivering a functional copy of the human SGCB gene to skeletal, heart, and diaphragm muscles. AAVrh74 is used for the targeted delivery of the healthy gene. The therapy is being evaluated in a Phase 1/2 trial.
SRP-9004
SRP-9004 is an experimental gene therapy designed to improve walking ability and muscle strength in people with limb-girdle muscular dystrophy (LGMD) type 2D. It showed tolerability and some benefits in early clinical trials.
Other experimental treatments
Multiple types of treatments are being developed for different forms of muscular dystrophy. Besides gene therapies and exon-skipping treatments, potential treatment approaches generally aim to prevent or improve muscle strength and heart health, slow or prevent muscle damage, or improve swallowing.
Ataluren
Ataluren is designed to treat only patients who have Duchenne muscular dystrophy caused by a particular type of defect in the DMD gene called a nonsense mutation. It is aimed at enabling the production of a full-length, functional dystrophin protein to help preserve muscle function.
BB-301
BB-301 is being developed as a potential treatment for oculopharyngeal muscular dystrophy. BB-301’s therapeutic approach is called DNA-directed RNA interference, or ddRNAi. It combines gene therapy with an RNA interference, or RNAi, strategy. It is in the preclinical stages of development.
BBP-418
BBP-418 is an experimental small molecule therapy designed to improve motor function in people with limb-girdle muscular dystrophy (LGMD) type 2i. A Phase 3 clinical trial of the treatment is ongoing.
CAP-1002
CAP-1002 is an investigational cell therapy designed to improve muscle strength and heart health in people with Duchenne muscular dystrophy (DMD). It is given by infusions into the bloodstream every three months.
Losmapimod
Losmapimod is an oral treatment to slow or prevent damage to muscles of patients with facioscapulohumeral muscular dystrophy. It is being assessed as an oral tablet formulation. A Phase 3 trial is underway.
Prednisone
Prednisone is an oral corticosteroid that’s not formally approved for people with DMD, but is commonly used off-label in these patients to ease inflammation and preserve muscle strength and function. The therapy is available as oral tablets and an oral solution, and exists in multiple brand name and generic formulations.
Rimeporide
Rimeropide is an experimental oral therapy to reduce muscle damage in people with Duchenne muscular dystrophy. A Phase 1b trial had positive results.
