Gene therapy targeting the DOK7 gene for treating congenital myasthenic syndromes.
Targeted DOK7 gene therapy for Congenital Myasthenic Syndromes
This study is testing a new gene therapy for people with Congenital Myasthenic Syndromes caused by changes in the DOK7 gene, aiming to improve muscle strength and quality of life by fixing the genetic issue that affects how muscles work.
Quick facts
| Grant type | Sbir 2 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Amplo Biotechnology, INC. NIH-funded |
| Lab location | 1 site (Towson, United States) |
| Project ID | NIH-10821851 on NIH RePORTER |
What this research studies
This research focuses on developing a targeted gene therapy for patients with Congenital Myasthenic Syndromes (CMS) caused by mutations in the DOK7 gene. The approach aims to enhance neuromuscular junction formation, which is crucial for muscle function. By using an AAV-based vector, the therapy seeks to correct the underlying genetic defect, potentially improving muscle strength and overall quality of life for affected individuals. The research is particularly significant as current treatments are inadequate and often lead to further complications.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with congenital myasthenic syndromes due to DOK7 gene mutations, including both children and adults.
Not a fit: Patients with congenital myasthenic syndromes caused by mutations in genes other than DOK7 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a much-needed effective treatment option for patients suffering from DOK7-related congenital myasthenic syndromes.
How similar studies have performed: While gene therapy for neuromuscular disorders is an emerging field, this specific approach targeting the DOK7 gene is novel and has not been extensively tested in prior studies.
Where this research is happening
Towson, United States
- 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 below.