Preparing treatments for infants and toddlers with LAMA2-related congenital muscular dystrophy
Clinical Trial Readiness for Children 0-5 years with Congenital Muscular Dystrophy Secondary to LAMA2 Mutations
This project is developing ways to measure and track motor skills and biological markers in children under 5 with LAMA2-related congenital muscular dystrophy so they can join future clinical trials.
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 ID | NIH-11195554 on NIH RePORTER |
What this research studies
We will enroll infants and young children under five with genetically confirmed LAMA2-RD and follow their motor development and biomarkers over time. The team will test and validate simple motor function measures that work for very young or non‑cooperative children and anchor those measures to clinician global impression ratings to define meaningful change. They will also collect blood and other markers to identify objective signs that track disease progression and treatment response. The goal is to produce validated outcome measures and trial-ready cohorts so future treatments can include the youngest children early when therapies may work best.
Who could benefit from this research
Good fit: Ideal candidates are infants and children under age five with a genetic diagnosis of LAMA2-related congenital muscular dystrophy whose parents or guardians can attend study visits.
Not a fit: Children older than five, people without LAMA2 mutations, or those with medical issues that prevent safe participation are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could let infants and young children with LAMA2-RD be included in trials sooner and give clearer ways to tell if a treatment is helping.
How similar studies have performed: Related work in older children and in animal models has supported therapy development, but validated outcome measures for infants with LAMA2-RD remain largely untested.
Where this research is happening
Columbus, United States
- 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
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.