Developing gene therapy for a rare genetic blood vessel disease in children
Modeling and Therapeutic Approaches for Genetic Vasculopathies
This study is looking into a rare genetic condition called Smooth Muscle Dysfunction Syndrome, which affects children and can cause serious health problems like strokes and weak blood vessels, and it aims to create a new gene therapy to help improve their health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10929415 on NIH RePORTER |
What this research studies
This research focuses on Smooth Muscle Dysfunction Syndrome, a rare genetic condition caused by a mutation in the ACTA2 gene that affects smooth muscle cells in various organs. The study aims to develop a gene therapy that can address the complex medical issues faced by affected children, including repeated strokes and weakened blood vessels. Researchers will use a novel mouse model to evaluate the effects of the mutation and explore potential therapeutic options using advanced gene editing techniques. By understanding the disease mechanisms and testing new treatments, the research seeks to improve outcomes for these patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Smooth Muscle Dysfunction Syndrome due to the ACTA2 gene mutation.
Not a fit: Patients with other genetic conditions or those not affected by the ACTA2 mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking gene therapy that significantly improves the health and quality of life for children with Smooth Muscle Dysfunction Syndrome.
How similar studies have performed: While gene therapy for genetic conditions is a rapidly evolving field, this specific approach targeting ACTA2-related vasculopathies is novel and has not been extensively tested in prior studies.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Musolino, Patricia L — Massachusetts General Hospital
- Study coordinator: Musolino, Patricia L
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.