Causes and Mechanism of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. The defective gene that causes DMD is located on the X chromosome, so it primarily affects boys. Girls can be carriers of the defective gene but usually do not experience full symptoms of the disease unless both X chromosomes are affected. DMD occurs in about 1 in every 3,500-5,000 male births.

When dystrophin is missing or faulty, muscle fibers are damaged and become replaced with fibrous and fat tissues during the regeneration process. This replacement process makes the muscles weaker over time. As muscles become damaged and weakened, it becomes difficult for those affected to do everyday activities like walking, running, and climbing stairs. Eventually, the heart and respiratory muscles also become affected and can lead to cardiac and breathing problems.

Clinical Trials Evaluating Gene Therapy and Antisense Oligonucleotides

Several clinical trials are underway to evaluate new treatments for Duchenne Muscular Dystrophy Treatment that target the underlying cause of the condition. One promising approach is gene therapy, which aims to introduce a functional copy of the dystrophin gene into muscle cells via an viral or non-viral vector.

Early-phase clinical trials are testing different gene therapy approaches, including using adeno-associated viral vectors to deliver the mini/micro dystrophin gene directly into muscles. Preliminary results show gene expression and restoration of dystrophin in some patients, along with improvements in muscle function. Larger clinical trials are still needed to determine long-term safety, efficacy, and benefits.

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