Muscle stem cell therapy for FKRP-related dystroglycanopathies
Targeting Dystroglycanopathies using Pluripotent-derived Myogenic Progenitors
This project uses muscle-forming cells made from human pluripotent stem cells to try to replace damaged muscle in people with FKRP-related dystroglycanopathies such as LGMD2I and congenital forms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Minnesota NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project ID | NIH-11238521 on NIH RePORTER |
What this research studies
If this reaches people, you could receive muscle-forming progenitor cells made from pluripotent stem cells that are directed to become skeletal muscle by turning on key genes like Pax3 or Pax7. The team first tests these cells in mouse models of FKRP-related dystroglycanopathies to see if they engraft, make functional muscle fibers, and create lasting muscle stem cells. They will measure biochemical correction (α-dystroglycan glycosylation), muscle strength, and respiratory muscle function to judge benefit. This work is preclinical but is intended to support future human trials for affected patients.
Who could benefit from this research
Good fit: People with confirmed FKRP mutations causing limb-girdle muscular dystrophy type 2I or congenital dystroglycanopathies (including MDC1C/Walker–Warburg spectrum) would be the intended candidates for future clinical testing.
Not a fit: Patients whose muscle disease is not caused by FKRP-related dystroglycanopathies, or those with advanced irreversible organ damage, are unlikely to benefit from this specific approach.
Why it matters
Potential benefit: Could restore functional muscle tissue and durable muscle stem cells, improving strength, breathing, and long-term outcomes for people with FKRP-related dystroglycanopathies.
How similar studies have performed: Related iPSC-derived myogenic progenitor transplants have engrafted and improved muscle function in animal models, but effectiveness in people has not yet been demonstrated.
Where this research is happening
Minneapolis, United States
- University of Minnesota — Minneapolis, United States (Active)
Researchers
- Principal investigator: Perlingeiro, Rita C. R. — University of Minnesota
- Study coordinator: Perlingeiro, Rita C. R.
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.