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Natural History Study of Mitochondrial Myopathy

NCT05250375 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1300

Last updated 2025-09-10

No results posted yet for this study

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.

Conditions

  • Primary Mitochondrial Disease

Sponsors & Collaborators

  • University of Pennsylvania

    collaborator OTHER

  • United Mitochondrial Disease Foundation (UMDF)

    collaborator UNKNOWN

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    collaborator NIH

  • Children's Hospital of Philadelphia

    lead OTHER

Principal Investigators

  • Zarazuela Zolkipli-Cunningham, MBChB · Children's Hospital of Philadelphia

Eligibility

Min Age
0 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-03-24
Primary Completion
2030-03-24
Completion
2030-03-24

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05250375 on ClinicalTrials.gov