NCT05250375 Natural History Study of Mitochondrial Myopathy
| NCT ID | NCT05250375 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Children's Hospital of Philadelphia |
| Condition | Primary Mitochondrial Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,300 participants |
| Start Date | 2017-03-24 |
| Primary Completion | 2030-03-24 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,300 participants in total. It began in 2017-03-24 with a primary completion date of 2030-03-24.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
MM Cohort Inclusion Criteria 1. Males or females age 0-100 years of age 2. 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. 3. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator 4. 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 1. Male or female fetuses 2. Non English speakers 3. Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. 4. 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 1. Males or females age 0-100 years of age 2. No history of mitochondrial myopathy symptoms 3. Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC) 4. 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 1. Male or female fetuses 2. Non English speakers 3. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA 4. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease 5. Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. 6. Individual is listed as a study staff member in eIRB, OR individual is a family member of a study staff member listed in eIRB 7. 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.
Contact & Investigator
Zarazuela Zolkipli-Cunningham, MBChB
PRINCIPAL INVESTIGATOR
Children's Hospital of Philadelphia
Frequently Asked Questions
Who can join the NCT05250375 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 100 Years, studying Primary Mitochondrial Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05250375 currently recruiting?
Yes, NCT05250375 is actively recruiting participants. Contact the research team at MitochondrialMyopathyResearch@chop.edu for enrollment information.
Where is the NCT05250375 trial being conducted?
This trial is being conducted at Philadelphia, United States.
Who is sponsoring the NCT05250375 clinical trial?
NCT05250375 is sponsored by Children's Hospital of Philadelphia. The principal investigator is Zarazuela Zolkipli-Cunningham, MBChB at Children's Hospital of Philadelphia. The trial plans to enroll 1,300 participants.