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.
- Long-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy
- Open-label Extension of the HOPE-2 Trial
- Safety and Biomarker Response to (+)-Epicatechin in Becker Muscular Dystrophy
- Digestive Events in Duchenne Muscular Dystrophy Patients
- A Phase 3 Trial of Pamrevlumab or Placebo in Combination With Systemic Corticosteroids, in Subjects With Non-ambulatory Duchenne Muscular Dystrophy (DMD)
- Effect of Foot Structure and Foot and Body Posture on Gait and Balance in Duchenne Muscular Dystrophy
- Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases
- Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor
- 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)
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.