RecruitingNCT05250375

Natural History Study of Mitochondrial Myopathy


Sponsor

Children's Hospital of Philadelphia

Enrollment

1,300 participants

Start Date

Mar 24, 2017

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 0 YearsMax Age: 100 Years

Plain Language Summary

Simplified for easier understanding

This natural history study follows people with mitochondrial myopathy — a genetic condition where the cells that power muscles don't work properly, causing weakness, fatigue, and exercise intolerance. The goal is to understand how the disease changes over time. The study also enrolls healthy volunteers for comparison. There is no experimental treatment involved. You may be eligible if: - You are any age (0–100 years) - You have a confirmed or suspected diagnosis of mitochondrial myopathy (based on genetics, lab tests, or clinical presentation) - You experience muscle weakness, exercise intolerance, or fatigue related to a mitochondrial condition - OR you are a healthy volunteer with no history of mitochondrial disease You may NOT be eligible if: - You are a fetus - You do not speak English - You are a study staff member or immediate family of one - (For healthy volunteers) You have a confirmed genetic mutation causing mitochondrial disease Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

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NCT05250375


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