At A Foundation Building Strength (AFBS), our mission is fueled by a commitment to world-class science. We’re thrilled to share a significant update from the lab of Dr. Vandana Gupta, part of our current 3-year, $3.6 million research investment
Dr. Gupta’s work is focused on some of the rarest forms of Nemaline Myopathy (NM), specifically those caused by mutations in the Kelch gene family (KLHL40, KLHL41, and KBTBD13). These genes are essential for regulating actin, the thin filaments that allow our skeletal muscles to stay strong and function properly.
The latest findings from April 2026 represent a major leap forward in both gene therapy and drug discovery.
Gene Replacement Therapy: Turning Days into Months
The most striking progress has occurred within the KLHL40 mouse model. Typically, mice with this mutation are so severely affected that they do not survive past seven days.
However, after optimizing their Gene Replacement Therapy strategy, Dr. Gupta’s team has seen remarkable results:
- Lifespan Extension: Early intervention with a high-dose treatment has extended the lifespan of these mice from just one week to over 180 days.
- Current Milestones: The oldest treated mice in the study are now 9 months old and continuing to thrive.
- Functional Gains: Beyond survival, the therapy has successfully rescued motor performance and promoted significant muscle growth.
A Critical Win for Safety
In the world of gene therapy, efficacy is only half the battle; safety is paramount. We are encouraged to report that Dr. Gupta’s studies show the treatment is well-tolerated. Crucially, there has been no evidence of toxicity in major organs like the liver, a vital finding given the safety challenges seen in other recent gene therapy trials. This favorable safety profile significantly strengthens the case for future clinical translation.
Repurposing Existing Meds: The Zebrafish Screen
While the mouse models help tackle KLHL40, Dr. Gupta is simultaneously using zebrafish models to find answers for KLHL41-related NM.
By screening approximately 1,400 FDA-approved drugs, the team has identified a handful of “positive hits” that improved the motility of the affected fish. Because these drugs are already FDA-approved for other uses, they offer a potentially faster track to reaching patients if their efficacy is confirmed in follow-up testing.
What’s Next?
The momentum in the Gupta Lab is high. In the coming months, the team will focus on:
- Statistical Power: Treating a larger group of KLHL40 mice to ensure the data is robust and trustworthy.
- Advanced Stages: Administering gene therapy at later time points to see if muscle function can be restored even after the disease has progressed.
- Focused Drug Screening: Moving the top-performing drugs from the zebrafish screen into more intensive testing.
We are incredibly proud to support Dr. Gupta’s relentless pursuit of effective treatments. This progress is a testament to what is possible when a dedicated community funds high-impact science.
One donation and one breakthrough at a time– we are building strength together.
A Foundation Building Strength (AFBS) is a nonprofit organization dedicated to accelerating the development of treatments for Nemaline Myopathy. Our mission is to fund cutting-edge research to find effective treatments while providing resources and a strong community for families affected by NM. We are proud to be at the forefront of driving Nemaline Myopathy research breakthroughs forward through collaborations with research teams across the globe.
Donate to AFBS: Your monetary gift will support critical research and provide vital resources for NM families.
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