A recent study published in the journal Science details a groundbreaking gene delivery technology called StitchR, which has shown promise in treating muscular dystrophies.

Douglas M. Anderson, PhD, the lead author of the study, highlighted the limitations of existing gene therapy vectors, which are often too small to address diseases caused by mutations in large genes.

StitchR employs a novel method that involves delivering two halves of large genes separately using harmless adeno-associated virus (AAV) vectors, which then join inside cells to facilitate protein generation.

Lynne E. Maquat, PhD, noted that while the concept of StitchR seems straightforward, considerable effort was needed to stabilize the molecules and enhance their efficiency.

The researchers optimized StitchR specifically for gene delivery, demonstrating its effectiveness in restoring large functional muscle proteins to normal levels in living animals.

In mouse models of Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD), StitchR successfully restored the production of large muscle proteins dystrophin and dysferlin.

By utilizing two independent AAVs, StitchR effectively overcomes delivery challenges, restoring the production of missing or inactive proteins through a ribozyme-mediated process that joins mRNA molecules.

Anderson described StitchR as 'plug and play', emphasizing its versatility across various genes and sequences, which could broaden its applications.

The research team is actively seeking collaborations to further develop StitchR for treating other diseases associated with large gene alterations.

Muscular dystrophy encompasses a range of diseases characterized by progressive muscle weakness and wasting, with DMD being the most prevalent type caused by mutations in the DMD gene, while LGMD may involve mutations in the DYSF gene.