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.
Age range
0 Years – 100 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Muscle Strength of MM-COAST
Timeframe: through study completion, an average of 5 years
Balance of the MM-COAST
Timeframe: through study completion, an average of 5 years
Dexterity of the MM-COAST
Timeframe: through study completion, an average of 5 years
Mitochondrial Disease Burden for Adults
Timeframe: through study completion, an average of 5 years
Mitochondrial Disease Burden for Children
Timeframe: through study completion, an average of 5 years
Challenges in Activities of Daily Life (ADLs)
Timeframe: through study completion, an average of 5 years
Functional Tasks of the Mitochondrial Myopathy Functional Scale (MMFS)
Timeframe: through study completion, an average of 5 years
Clinical Progression: Survival
Timeframe: through study completion, an average of 5 years
Clinical Progression: Growth
Timeframe: through study completion, an average of 5 years
Clinical Progression: Other Illnesses
Timeframe: through study completion, an average of 5 years
Clinical Progression: Hospitalizations
Timeframe: through study completion, an average of 5 years
Clinical Progression: Ambulatory Status
Timeframe: through study completion, an average of 5 years
Clinical Progression: Pacemaker Requirement
Timeframe: through study completion, an average of 5 years
Clinical Progression: Ventilatory Support
Timeframe: through study completion, an average of 5 years
Clinical Progression: Gastrostomy Status
Timeframe: through study completion, an average of 5 years
Qualitative Interviews
Timeframe: through study completion, an average of 5 years
MM patient-reported outcome measure (PROM), MM-IMPACT
Timeframe: through study completion, an average of 5 years