Clinical Trial Readiness for Very Young Children with LAMA2-Related 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-11393814 · Data updated 2026-11-12
Aims to prepare very young children with LAMA2-related muscular dystrophy for future therapies by validating measurements and biomarkers that can track progress.
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 | 2026 |
| Award (this year) | $763,977 |
| NIH project number | 5U01NS124961-04 |
| Project ID | NIH-11393814 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children under 5 with genetically confirmed LAMA2-RD from participating sites.
✕Less likely to help
Children without LAMA2-RD or outside the age window may not benefit directly.
What this research studies
This project focuses on children under 5 with LAMA2-RD and aims to validate motor outcome measures and biomarkers so future treatments can be tested reliably. The team will establish how to measure meaningful changes in motor function and link these changes to clinical impressions of improvement. They will identify which child characteristics best predict responsiveness to therapies and determine minimal differences that matter to families and clinicians. The effort involves collaboration across experts to align early-life assessments with upcoming clinical trials.
Why it matters
Potential benefit: If successful, this work could speed future treatments by providing reliable ways to measure improvement in very young children with LAMA2-RD.
How similar studies have gone: There is precedent for developing disease-specific outcome measures in similar pediatric muscular dystrophies, but LAMA2-RD-specific COAs in <5-year-olds are in early stages.
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.