Natural History Study of Mitochondrial Myopathy
ConditionPrimary Mitochondrial Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-100
SponsorChildren's Hospital of Philadelphia
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 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 criteria
Qualifiers
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.
Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator
Able to provide written consent OR parental permission and child assent OR if they are an adult with diminished capacity, an LAR or healthcare representative is able to and willing to provide consent ., as approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)
Disqualifiers
Male or female fetuses
Non English speakers
Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
1,300 Participants
are grouped into 2 trial groupsSponsors and collaborators
Children's Hospital of Philadelphia
Lead sponsor
University of Pennsylvania
Collaborator
United Mitochondrial Disease Foundation (UMDF)
Collaborator
National Institutes of Health (NIH)
Collaborator
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Collaborator
Source ClinicalTrials.gov