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Natural History Study of Mitochondrial Myopathy
Sponsor: Children's Hospital of Philadelphia
Summary
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 mitochondrial myopathy to healthy controls. Data from healthy controls will also help define normative data for future studies. Participants will perform clinical exams of muscle strength and endurance and will complete surveys.
Key Details
Gender
All
Age Range
0 Years - 100 Years
Study Type
OBSERVATIONAL
Enrollment
1300
Start Date
2017-03-24
Completion Date
2030-03-24
Last Updated
2025-09-10
Healthy Volunteers
Yes
Conditions
Locations (1)
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States