Gene therapy targeting the ColQ gene for treating congenital myasthenic syndromes.
Official title: Targeted ColQ gene therapy for Congenital Myasthenic Syndromes
Funded at Amplo Biotechnology, INC. · NIH-11262171 · Data updated 2026-11-12
This study is testing a new gene therapy to help people with Congenital Myasthenic Syndromes caused by problems with a protein called Collagen Q, aiming to improve muscle strength and make daily life easier for those affected.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Amplo Biotechnology, INC. NIH-funded |
| Lab location | 1 site (Towson, United States) |
| Project start | June 1, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $601,044 |
| NIH project number | 4R42NS127713-03 |
| Project ID | NIH-11262171 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Congenital Myasthenic Syndromes, particularly those with defects in the ColQ gene, including both children and adults.
✕Less likely to help
Patients with other forms of myasthenic syndromes that do not involve the ColQ gene may not benefit from this research.
What this research studies
This research focuses on developing a gene therapy approach to treat Congenital Myasthenic Syndromes (CMS), specifically targeting defects in the Collagen Q (ColQ) protein that lead to severe muscle weakness. The therapy utilizes adeno-associated viruses (AAV) to deliver the correct gene to patients, aiming to restore normal function at the neuromuscular junction. By addressing the underlying genetic cause of ColQ CMS, the research seeks to improve muscle strength and overall quality of life for affected individuals.
Why it matters
Potential benefit: If successful, this research could provide a potential cure for patients suffering from ColQ CMS, significantly improving their muscle function and quality of life.
How similar studies have gone: While gene therapy for other genetic disorders has shown promise, this specific approach for ColQ CMS is novel and has not been extensively tested in clinical settings.
Where this research is happening
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Amplo Biotechnology, INC.
Towson, United States Active
Researchers
- Principal investigator: Sepulveda, Patricio — Amplo Biotechnology, INC.
- Study coordinator: Sepulveda, Patricio
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.