Following the course of primary mitochondrial myopathy and building ways to measure it
Studies how primary mitochondrial myopathy changes over time, compared with healthy people.
Key facts
- Who runs it
- Children's Hospital of Philadelphia
- Where
- Philadelphia, United StatesSee the site
- Trial code
- Registry title
- Natural History Study of Mitochondrial Myopathy
- Status
- Recruiting
- People taking part
- 1,300 people, planned
- Started
- 24 Mar 2017
- Expected to end
- 24 Mar 2030
- Type of study
- Observational, 2 groups
- Record updated
- 17 September 2026
Who can take part
- Age
- 0 years to 100 years
- Sex
- Women and men
- Healthy volunteers
- Can take part
The registry criteria, word for word
Show all 20 criteriaShow less
Other criteria
- MM Cohort Inclusion Criteria
- Males or females age 0-100 years of age
- 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); MM Cohort Exclusion Criteria
- 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; Healthy Control Cohort Inclusion Criteria
- Males or females age 0-100 years of age
- No history of mitochondrial myopathy symptoms
- Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)
- Individual is not a study staff member or a family member of a study staff member (not listed as a study staff in eIRB); Healthy Control Exclusion Criteria
- Male or female fetuses
- Non English speakers
- Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA
- Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease
- Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures
- Individual is listed as a study staff member in eIRB, OR individual is a family member of a study staff member listed in eIRB
- 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
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 100 years old?
Where in United States
- Children's Hospital of PhiladelphiaPhiladelphia, United StatesContact: Amanda WellikTaking people
About the trial
What the trial wants to find out
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:
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* 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.
The 2 groups in the trial
- Primary Mitochondrial Myopathy
Patients with a 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 and exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to mitochondrial disease.
- Healthy Controls
Males or females age 0-100 years of age with no history of mitochondrial myopathy symptoms.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Natural History Study of Mitochondrial Myopathy
- Plain-language title
- Following the course of primary mitochondrial myopathy and building ways to measure itGenerated from the registry record. The registry title is the official one.
- Fit questions
- Built from NCT05250375, who can take part
- Record updated
- 17 September 2026