Targeted ColQ gene therapy for a congenital nerve-muscle disorder
Official title: Targeted ColQ gene therapy for Congenital Myasthenic Syndromes
Funded at Amplo Biotechnology, INC. · NIH-11310874 · Data updated 2026-11-12
A new gene therapy approach aims to help children and adults with a rare congenital muscle weakness called ColQ CMS by delivering a corrected gene using an AAV-based system.
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 | 2026 |
| Award (this year) | $1,357,367 |
| NIH project number | 5R42NS127713-04 |
| Project ID | NIH-11310874 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with ColQ CMS, including both pediatric and adult patients, who have limited effective treatment options.
✕Less likely to help
Patients with CMS subtypes not related to ColQ or those unable to undergo gene therapy procedures may not benefit.
What this research studies
This project focuses on ColQ congenital myasthenic syndromes, a rare disease where muscle weakness worsens with activity. It uses an adeno-associated virus delivery platform to target Collagen Q and restore proper neuromuscular junction function. The study outlines developing a streamlined process to test the gene therapy, with attention to safety and potential improvements in breathing and feeding difficulties that CMS patients often face. If successful, the work could pave the way for future clinical testing and broader treatment options for ColQ CMS patients.
Why it matters
Potential benefit: If successful, patients with ColQ CMS could experience improved muscle strength and daily function with a disease-modifying therapy.
How similar studies have gone: Previous approaches to CMS have shown symptomatic relief with adrenergic agents, but a targeted ColQ gene therapy represents a novel and potentially transformative strategy.
Where this research is happening
-
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.