Improving drug development for young children with a specific type of muscular dystrophy
Clinical Trial Readiness for Children 0-5 years with Congenital Muscular Dystrophy Secondary to LAMA2 Mutations
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 ID | NIH-10930957 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 5 years old who have been genetically confirmed to have LAMA2-related congenital muscular dystrophy.
Not a fit: Patients who are older than 5 years or do not have LAMA2-related muscular dystrophy may not benefit from this research.
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 performed: 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
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.