Nemaline Myopathy Gene Therapy Research Moves to Next Phase of Pre-Clinical Trials

Research September 9, 2024September 9, 2024

We’re excited to share some encouraging news on the front lines of Nemaline Myopathy research. Dr. Afrooz Rashnonejad and her team, funded by the support of AFBS, have been making strides in developing a potential gene therapy for NEM3, a form of Nemaline Myopathy caused by mutations in the ACTA1 gene.

Nemaline Myopathy Gene Therapy: The Science in Simple Terms

In essence, Dr. Rashnonejad’s lab is working to silence the faulty ACTA1 gene and replace it with a healthy one. They’ve developed tiny genetic tools called microRNAs (miRNAs) that act like switches, turning off the mutated gene while leaving the healthy copy untouched. Initial tests in cells were positive, showing a decrease in harmful protein clumps called nemaline rods, a hallmark of the disease.

Next, they packaged these genetic tools into delivery vehicles called AAV (Adeno-Associated Virus) vectors and conducted a pilot study in mice. Their promising results saw a significant decrease in the activity of the mutated gene, suggesting the approach works in living organisms.

Recent Milestones and Next Steps

Over the last few months, the team has been busy preparing for the next critical phase: a pre-clinical trial in mice. They’ve been manufacturing the therapeutic product and expanding their colony of ACTA1 mice, which serve as a model for the disease.

The upcoming trial will combine the silencing of the mutant gene with the introduction of the healthy gene. In this new phase, the team will determine the safest and most effective dosage of this gene therapy. The ultimate goal is to demonstrate that this treatment can improve the condition of mice with NEM3, paving the way for potential human clinical trials!

What This Means for the NEM3 Community

While these findings are still in the early stages, they represent a significant step forward. Dr. Rashnonejad’s innovative approach offers a glimmer of hope for individuals and families affected by NEM3. AFBS is proud to support this groundbreaking research, and we will continue to provide updates as the project progresses.

Remember: Research takes time, but each milestone brings us closer to a future where NEM3 may be treatable. We are deeply grateful to Dr. Rashnonejad and her team for their tireless dedication and to our generous donors who make this critical Nemaline Myopathy gene therapy research possible. Together, we are building strength for a brighter tomorrow!