Dr. Vandana Gupta and her team at Brigham & Women’s Hospital, with funding from A Foundation Building Strength (AFBS), are making exciting progress in the quest to find treatments for Nemaline Myopathy (NM). This rare neuromuscular disease affects muscle function and can significantly impact quality of life. Here’s a quick update on their recent research breakthroughs in Nemaline Myopathy gene therapy and drug repurposing.
Research Enters a New Phase
After successfully developing mouse & zebrafish models (crucial to understanding the disease process and testing potential therapies) of NM causing Kelch genes KLHL40, KLHL41 and KBTBD13, Dr. Gupta’s team is now working on developing gene therapy & small molecule (drug) therapy for the rare forms of NM caused by mutations in these genes.
Big News on the Therapeutic Front
- Gene Therapy: Early results from AAV gene therapy in mice with severe NM have shown improvement in both lifespan and muscle function. This is a major step forward and warrants further investigation.
- Drug Repurposing: The team screened hundreds of FDA-approved drugs on their zebrafish model of NM. They’ve identified 16 promising drug candidates, opening the door for additional research into their potential therapeutic use.
What This Means for NM Patients
These findings represent significant progress toward effective treatments for NM. While more research is needed, Dr. Gupta’s team is paving the way for a brighter future for those affected by this rare disease. AFBS is proud to support this vital work and remains committed to advancing research that improves the lives of individuals with NM.
We look forward to sharing further updates as Dr. Gupta’s research progresses!