Sarepta is pursuing the development of precision genetic medicine at the forefront of biotechnology for rare diseases: gene therapy, RNA-targeted exon skipping, and gene editing. And we’re constantly looking for new ways to tackle rare genetic diseases, which include developing drugs faster with more predictability, differentiated manufacturing processes, and novel reimbursement models.
The following provides a general overview of the three modalities Sarepta is pursuing—gene therapy, RNA technologies, and gene editing.
A genetic mutation in DNA causing absent or dysfunctional protein can lead to a neuromuscular disease such as Duchenne muscular dystrophy (DMD) or limb-girdle muscular dystrophy (LGMD).
The goal of gene therapy is to add a functional copy (a transgene) of a missing or malfunctioning gene, with the hope of treating the disease.
DMD is caused by a genetic mutation in the dystrophin gene. Most commonly, one or more exons (parts of the gene) are missing, causing errors in the instructions for making dystrophin, which results in the body not being able to produce enough—or any—working dystrophin protein. The goal of exon skipping, and that of Sarepta’s proprietary technologies, is to act on the RNA to allow the body to make a shorter form of the dystrophin protein to bypass the mutation.
Sarepta is investigating ways to restore dystrophin expression by removing—or excising—exons that contain a genetic mutation from the dystrophin gene using gene editing technology such as CRISPR/Cas9. This technology is being developed to treat DMD.