Center improving care and trials for FKRP and related muscular dystrophies
Muscular Dystrophy Specialized Research Center
This project follows people with FKRP and other dystroglycanopathy gene changes across ages to map how symptoms and function change and to find reliable measures and biomarkers that could help future treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Iowa NIH-funded |
| Lab location | 1 site (Iowa City, United States) |
| Project ID | NIH-11131723 on NIH RePORTER |
What this research studies
You would join a group of people with FKRP or other dystroglycanopathy gene changes who are seen regularly so researchers can track how the condition changes over months and years. The team follows a large FKRP cohort (over 100 people) and additional groups with other related genes, using standardized motor tests and questionnaires. They offer remote visits for people with advanced disease so real-world needs (like breathing support) are recorded even if travel is hard. The project also looks for biomarkers, including eye tests such as electroretinogram (ERG), to link clinical changes with measurable biological signs.
Who could benefit from this research
Good fit: Ideal candidates are children and adults who have FKRP mutations or other dystroglycanopathy-related gene mutations, including people at early or advanced stages of disease.
Not a fit: People without dystroglycanopathy gene changes or with unrelated neuromuscular conditions are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve day-to-day care and make clinical trials more fair and useful by identifying the best outcome measures and biomarkers.
How similar studies have performed: Natural-history studies in other forms of muscular dystrophy have helped design trials and outcome measures, but dystroglycanopathies are rarer so this work is still developing and partly novel.
Where this research is happening
Iowa City, United States
- University of Iowa — Iowa City, United States (Active)
Researchers
- Principal investigator: Mathews, Katherine Dianne — University of Iowa
- Study coordinator: Mathews, Katherine Dianne
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.