Countdown | Global Progress in DMD Gene Therapy Drug Launches and Research

Duchenne muscular dystrophy (DMD) is a rare, fatal genetic disease caused by a mutation in the gene that encodes for dystrophin, a protein that protects muscles from damage. This results in a loss or functional deficiency of dystrophin, leading to a series of muscle disorders.

DMD is an X-linked recessive disease and a severe form of muscular dystrophy. The absence of functional dystrophin in DMD patients leads to cellular damage during muscle contraction, resulting in cell death, inflammation, and muscle tissue fibrosis. Approximately 1 in every 5000 newborn boys is affected by the disease. There is currently no cure for DMD, and standard treatments involve the use of medication to alleviate muscle spasms and pain, physical and rehabilitation therapy to maintain movement, and the use of breathing and heart assist devices to prolong survival and improve quality of life.

In recent years, several drugs for the treatment of DMD have been approved (see Table 1), including four types of antisense oligonucleotide therapy. Antisense oligonucleotide (ASO) therapy achieves its therapeutic goals by exon skipping, but these drugs can only cover a small number of specific mutation sites in DMD patients. In addition to exon skipping, gene transfer therapy and other methods are a better choice, and multiple DMD gene therapy drugs are currently in clinical trials (see Table 2). The Alliance Secretariat is paying attention to the progress of DMD and will provide a summary of the currently available and in-development or clinical DMD drugs. The information presented in this report was collected from various sources on the internet and if there are any errors or omissions, please do not hesitate to point them out.

Table 1. Approved drugs for treating DMD