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Duchenne Muscular Dystrophy Resources

Educational Content

Learn about Duchenne Muscular Dystrophy, its symptoms, and treatment options.

Research Papers on Duchenne Muscular Dystrophy

Research on Duchenne Muscular Dystrophy (DMD) is progressing rapidly. Some recent studies focus on gene therapies, exon skipping, and other therapeutic approaches. Below are some key papers:

Exon Skipping for Duchenne Muscular Dystrophy

Exon skipping is a therapeutic strategy aimed at skipping over the defective parts of the dystrophin gene, allowing the production of a shortened, but functional, form of dystrophin. This approach has shown promise in clinical trials and could provide a potential treatment option for DMD patients.

Some recent clinical trials using exon skipping technology have led to the approval of drugs like eteplirsen (Exondys 51) by the FDA, which targets exon 51 of the dystrophin gene. This therapy has been shown to improve walking ability in some patients.

For more information on exon skipping therapies, see the research paper: Exon Skipping in Duchenne Muscular Dystrophy.

Gene Therapy for Duchenne Muscular Dystrophy

Gene therapy aims to treat the root cause of DMD by either replacing the mutated dystrophin gene or by using other methods to restore the production of dystrophin. The goal is to deliver a functional copy of the dystrophin gene to muscle cells, either through viral vectors or other gene delivery mechanisms.

Currently, several gene therapy trials are underway, and there have been significant advances in the use of adeno-associated viruses (AAV) to deliver the gene therapy. Companies like Sarepta Therapeutics and Solid Biosciences are leading the development of gene therapies for DMD.

For more on the progress of gene therapies, refer to this article: Gene Therapy for Duchenne Muscular Dystrophy: Current Status and Future Directions.

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