Better tests and tracking for mitochondrial myopathy
Addressing the Research Gap in Mitochondrial Myopathy with Validated Outcome Measures and Natural History
This project creates clearer tests and collects long-term patient data to measure muscle weakness, fatigue, and exercise tolerance for children and adults with mitochondrial myopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11145230 on NIH RePORTER |
What this research studies
You would be asked to complete physical performance tests and simple clinical assessments while the team uses the MM-COAST composite score to track strength, fatigue, balance, dexterity, and exercise tolerance over time. The researchers will collect prospective clinical visits, performance measures, and blood or metabolic samples to build a natural history of mitochondrial myopathy. They will refine and validate the MM-COAST as an outcome measure and search for metabolic biomarkers that change with disease progression. The goal is to create reliable measures that make future clinical trials and treatment decisions clearer for patients.
Who could benefit from this research
Good fit: Ideal candidates are children and adults with mitochondrial myopathy or genetically confirmed primary mitochondrial disease who can travel to study visits and complete physical testing.
Not a fit: People without mitochondrial myopathy, or those unable to attend visits or perform the required physical tests, are unlikely to gain direct benefit from participation.
Why it matters
Potential benefit: If successful, this work could give patients clearer ways to track disease and make clinical trials more likely to show whether new treatments work.
How similar studies have performed: Parts of this approach—specifically the MM-COAST composite—have been developed and piloted at CHOP, but broad prospective natural history and metabolic biomarker studies in mitochondrial myopathy remain novel.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Zolkipli Cunningham, Zarazuela — Children's Hosp of Philadelphia
- Study coordinator: Zolkipli Cunningham, Zarazuela
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.