Natural History Study of Mitochondrial Myopathy
Recruiting
Observational Study
Primary Mitochondrial Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 0 – 100
- Sex
- Any
- Study type
- Observational
- Participants needed
- 1,300 (estimated)
- Sponsor
- Children's Hospital of Philadelphia · Other
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About This Trial
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM). The main aims of this study are:
* Development, validation, and optimization of objective outcome measures for mitochondrial myopathy
* Defining the natural history of mitochondrial myopathy
Researchers will compare data from patients with primary…
Trial Locations
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Eligibility Criteria
MM Cohort Inclusion Criteria
1. Males or females age 0-100 years of age
2. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA OR is suitable for participation in the opinion of the investigator based on clinical presentation.
3. Exhibits myopathy…
Contacts