Improving drug development for young children with a specific type of muscular dystrophy
Official title: Clinical Trial Readiness for Children 0-5 years with Congenital Muscular Dystrophy Secondary to LAMA2 Mutations
Funded at Research Inst Nationwide Children's Hosp · NIH-10930957 · Data updated 2026-11-12
This study is all about finding better treatments for young kids under 5 who have a specific type of muscular dystrophy caused by LAMA2 mutations, and it will help make sure that any new therapies work well for them by using special tests and mouse models to understand the disease better.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | September 18, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $845,606 |
| NIH project number | 5U01NS124961-02 |
| Project ID | NIH-10930957 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 5 years old who have been genetically confirmed to have LAMA2-related congenital muscular dystrophy.
✕Less likely to help
Patients who are older than 5 years or do not have LAMA2-related muscular dystrophy may not benefit from this research.
What this research studies
This research focuses on accelerating the development of treatments for children under 5 years old who have congenital muscular dystrophy caused by LAMA2 mutations. It aims to validate clinical outcome assessments that can measure the effectiveness of potential therapies in this age group, which is crucial since traditional methods used for older children may not apply. The study will utilize advanced mouse models to better understand the disease and explore various therapeutic strategies, including protein replacement and gene therapy. By establishing reliable measures of motor function, the research seeks to ensure that young patients can benefit from new treatments as soon as they become available.
Why it matters
Potential benefit: If successful, this research could lead to effective early treatments for young children with LAMA2-related muscular dystrophy, potentially improving their quality of life and long-term outcomes.
How similar studies have gone: While this research is focused on a specific age group and condition, similar approaches in validating clinical outcome assessments for rare diseases have shown promise in other contexts.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Connolly, Anne M — Research Inst Nationwide Children's Hosp
- Study coordinator: Connolly, Anne M
Related research
Other NIH-funded projects on the same topics.
-
Advancing manufacturing and release testing for a Duchenne gene editing therapy
A project to optimize how a dual-vector AAV gene editing treatment for Duchenne muscular dystrophy is made and tested, so it can move toward clinical use.
-
Understanding why Duchenne Muscular Dystrophy worsens and how to stop it
A research team at USC is studying Duchenne muscular dystrophy to find out why the disease continues to progress and how to interrupt harmful changes in muscle tissue.
-
Endocrine role of intramuscular fat in muscular dystrophy
This grant studies how fat that builds up inside muscles in Duchenne and Becker muscular dystrophy may release hormones that affect overall health, especially metabolism.
-
Stopping steroid-related muscle and bone wasting in Duchenne muscular dystrophy
Researchers are testing ways to protect muscles and bones in people with Duchenne muscular dystrophy who take long-term steroid medicines.
-
Curation of muscular dystrophy genes to improve diagnosis and care
A grant to help doctors better interpret genetic tests for muscular dystrophy and myopathy so patients get clearer diagnoses and faster access to therapies.
-
MR clues to how nNOS affects energy use and blood flow in Becker and Duchenne muscular dystrophy
This project looks at how advanced MRI tests can track muscle energy and blood flow changes in people with Becker and Duchenne muscular dystrophy as new gene therapies are explored.
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.