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!
Dear research team,
My daughter is afflicted with NM. She is six years old. Do you think how long will it take to achieve a kind of gene or medisine therapy. Moreover, at the present time, can we use any medisine for partial treatment?
Your sincerely
Reza Hosseini Baghanam
Hi, Reza! Thank you for your inquiry and for sharing your daughter’s experience with Nemaline Myopathy (NM). We understand the urgency and hope for new treatments.
AFBS is actively funding numerous research studies aimed at developing gene and drug therapies for NM. While we are committed to accelerating progress, it is difficult to predict precisely when these therapies will become available for clinical use.
It’s important to note that currently, there are no FDA-approved drugs specifically for NM treatment. However, an AFBS-funded team is actively screening over 1,500 FDA-approved drugs for potential repurposing.
To advance research, we recently launched the Begg’s Lab NM Biobank, a crucial repository for NM tissue samples, and this year, we will begin the first NM Natural History Study, which will provide invaluable insights into the disease’s progression.
If you are interested in potentially having your daughter participate in these programs or learning about other research opportunities, please complete the AFBS Community Contact Survey found here: https://www.surveymonkey.com/r/AFBS-Contact-List. This will allow us to connect you with relevant resources and potential future studies. Additionally, we would be happy to add you to our email list to keep you informed about the latest research advances, community events, and AFBS news.
Thank you for reaching out!
Thanks a lot for your response. I enclose my email address here.