Gene therapy approaches

Adeno-Associated Virus (AAV) Vectors

AAV vectors have emerged as a cornerstone of gene therapy due to their remarkable efficiency in delivering genetic material to targeted cells. Leveraging this capability, scientists have harnessed the fact that not all segments of the dystrophin protein are essential for its functionality. Through ingeniously designed mini-dystrophin constructs, which can be seamlessly transported via AAV vectors, a partially functional dystrophin protein can be synthesized. This ingenious strategy holds immense potential to enhance muscle function and decelerate the progression of the disease. AAV vectors are precisely engineered in DMD gene therapy to encapsulate the functional dystrophin gene, facilitating its transportation into muscle cells, thereby enabling the production of the crucial missing dystrophin protein.

CRISPR/Cas9 Gene Editing

CRISPR/Cas9 is a revolutionary gene-editing technology that allows for precise modifications of the DNA sequence. In the context of DMD, CRISPR/Cas9 can be used to correct specific mutations in the dystrophin gene. Researchers are exploring the use of CRISPR/Cas9 to edit out disease-causing mutations or restore the reading frame of the dystrophin gene, potentially leading to the production of functional dystrophin protein. Although CRISPR-based therapies are still in the early stages of development for DMD, they show great promise

Base editing

Base editing is an innovative approach that involves precise modification of individual DNA letters or bases within the dystrophin gene, which is responsible for the production of the dystrophin protein. Base editors use specialized enzymes to change a specific base to another, correcting disease-causing mutations. In the context of DMD, base editing holds potential for directly addressing specific mutations and restoring the proper reading frame of the dystrophin gene, leading to the production of functional dystrophin protein. This technology offers a targeted and precise method to potentially treat DMD at its genetic roots.

Utrophin Upregulation

Utrophin is a protein similar to dystrophin that is naturally produced by muscle cells. Researchers are exploring ways to upregulate utrophin production as a potential therapeutic strategy for DMD. Utrophin acts as a substitute for dystrophin, compensating for its absence or deficiency. Different approaches, including small molecules and gene therapy, are being investigated to increase utrophin expression in muscle cells, with the goal of improving muscle function and delaying disease progression.

These are just a few examples of the exciting research happening in the field of DMD. While these therapies have shown promise in preclinical and early-stage clinical trials, further research is needed to establish their long-term safety and efficacy. It is important to note that gene therapies are still in the investigational stages, and their availability may vary depending on ongoing clinical trials and regulatory approvals.

At Heal DMD, we actively support promising, innovative research projects in North America and Europe.

Adeno-Associated Virus (AAV) Vectors

CRISPR/Cas9 Gene Editing

Base editing

Utrophin Upregulation

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