Duchenne muscular dystrophy or DMD is the most common of the muscular dystrophies, affecting approximately 1 in every 3,500 newborn boys. It is caused by a fault in a gene called the dystrophin or DMD gene. A fault in this gene stops the body making a protein called dystrophin. This protein is important in muscle fibres, and its absence results in muscle weakness that gets worse over time because muscle cells break down and are gradually lost.
Because the dystrophin gene is on the X chromosome, Duchenne muscular dystrophy affects only boys. Girls have two X chromosomes, so if one of these is unaffected it can usually compensate for the faulty one, while boys have one X and one Y chromosome, so if their single copy of the dystrophin gene is faulty, they have the symptoms of DMD, while girls with one affected gene and one normal one usually won’t show symptoms but can be “carriers”. This means that the disease can be passed on in families – a mother who is a carrier has a 50:50 chance of having a son who is affected. But in up to about a third of cases, the mutation arises spontaneously in the boy.
- The Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation
- A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
- Weekend Steroids and Exercise as Therapy for DMD
- The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy
- A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of PF-06939926 in DMD
- A Phase 3 Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy
- A Low Interventional Study to Monitor Activity Using Wearable Sensors in Duchenne Muscular Dystrophy
- AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
- Wearable Technology to Assess Gait Function in SMA and DMD
- A Study to Assess the Safety, Tolerability and Preliminary Efficacy of ASP0367 (MA-0211) in Pediatric Male Participants With Duchenne Muscular Dystrophy (DMD)
The aim of this overview is to inform patients and parents about the different therapeutic approaches for Duchenne muscular dystrophy currently under investigation, to describe the advantages and disadvantages of each approach and to list the hurdles that have to be overcome before these approaches can be applied to patients.