How fibroblasts influence collagen VI–related muscular dystrophy
In vivo role of the fibroblast in muscular dystrophy-Renewal
This work looks at whether connective-tissue cells called fibroblasts drive muscle wasting in people with collagen VI–related congenital muscular dystrophy (Ullrich and Bethlem).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project ID | NIH-11221946 on NIH RePORTER |
What this research studies
As someone affected by collagen VI congenital muscular dystrophy, this research uses mouse models that mimic the human Col6a2 deficiency to study how muscle fibers detach from their supporting basement membrane. Scientists will examine how integrin signaling and TGFβ activation trigger fibroblast (FAP) responses and harmful extracellular matrix changes. They will manipulate genes and signaling pathways in the mice to see whether altering fibroblast behavior breaks a cycle that worsens muscle disconnection and wasting. The team aims to map the cellular circuit that could be targeted by future therapies.
Who could benefit from this research
Good fit: People with collagen VI–related congenital muscular dystrophy (Ullrich or Bethlem), particularly adolescents and adults with confirmed COL6A1/COL6A2/COL6A3 mutations, would be the patient group most likely to be eligible for related future research.
Not a fit: Patients with other types of muscular dystrophy not caused by collagen VI mutations, or those seeking immediate clinical treatments, may not directly benefit from this preclinical research.
Why it matters
Potential benefit: If successful, this work could reveal new targets (integrin, TGFβ, or fibroblast pathways) for treatments that slow or prevent muscle wasting in people with collagen VI–related congenital muscular dystrophy.
How similar studies have performed: Prior laboratory work has implicated extracellular matrix defects, integrin signaling, and TGFβ in collagen VI myopathies, but targeting fibroblast-driven disease circuits remains largely preclinical and unproven in patients.
Where this research is happening
Cincinnati, United States
- Cincinnati Childrens Hosp Med Ctr — Cincinnati, United States (Active)
Researchers
- Principal investigator: Vanhoutte, Davy — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Vanhoutte, Davy
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.