Measuring disease progression in mitochondrial myopathy

Natural History Study of Mitochondrial Myopathy

This study is trying to find better ways to track how primary mitochondrial myopathy changes over time in patients so that future treatments can be developed more effectively.

Quick facts

• Study type: Observational
• Enrollment: 1300 (estimated)
• Ages: 0 Years to 100 Years
• Sex: All
• Sponsor: Children's Hospital of Philadelphia (Academic / other)
• Locations: 1 site (Philadelphia, Pennsylvania)
• Trial ID: NCT05250375 on ClinicalTrials.gov

What this trial studies

This observational study aims to develop and validate tools for measuring the disease course in patients with primary mitochondrial myopathy (PMM). Researchers will compare clinical data from PMM patients to healthy controls to establish normative data and understand the natural history of the disease. Participants will undergo clinical exams assessing muscle strength and endurance, and complete surveys to gather comprehensive data. The ultimate goal is to enhance clinical trial design and drug approval processes for PMM by establishing validated outcome measures.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age with a confirmed mitochondrial disorder and symptoms related to myopathy.

Not a fit: Patients without a confirmed mitochondrial disorder or those who do not exhibit myopathy symptoms may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved assessment and treatment strategies for patients with mitochondrial myopathy.

How similar studies have performed: While there is limited knowledge about the natural history of PMM, similar studies have shown promise in developing outcome measures for rare diseases.

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.

Where this trial is running

Philadelphia, Pennsylvania

• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)

Study contacts

• Principal investigator: Zarazuela Zolkipli-Cunningham, MBChB — Children's Hospital of Philadelphia
• Study coordinator: Katelynn Stanley, BS

Conditions Primary Mitochondrial Disease; Mitochondrial Myopathy; Mitochondrial Disease; Healthy Volunteers; Natural History; Muscle Weakness; Fatigue; Outcome Measures