Actively Recruiting
Natural History Study of Mitochondrial Myopathy
Led by Children's Hospital of Philadelphia · Updated on 2025-09-10
1300
Participants Needed
1
Research Sites
678 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Philadelphia
Lead Sponsor
U
University of Pennsylvania
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History Study of Mitochondrial Myopathy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males or females age 0-100 years
- Diagnosis of mitochondrial disorder confirmed by genetic or biochemical testing OR based on clinical judgment
- Exhibits muscle-related symptoms such as exercise intolerance, muscle weakness, or fatigue related to mitochondrial disease
- Able to provide written consent, parental permission with child assent, or consent from a legally authorized representative as approved by the IRB
- For healthy controls: males or females age 0-100 years with no history of mitochondrial myopathy symptoms
- Healthy controls able to provide written consent or parental permission and child assent
- Healthy controls are not study staff members or family members of study staff
You will not qualify if you...
- Fetuses (male or female)
- Non-English speakers
- Individuals who may be non-compliant with study schedules or procedures as judged by the investigator
- For healthy controls: confirmed mitochondrial disorder by genetic or biochemical testing
- For healthy controls: exhibits muscle-related symptoms such as exercise intolerance, muscle weakness, or fatigue related to mitochondrial disease
- Healthy controls who are study staff or family members of study staff
- Individuals not meeting all enrollment criteria
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
Research Team
K
Katelynn Stanley, BS
CONTACT
J
Jean Flickinger, PT
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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