Natural History Study of Mitochondrial Myopathy

Conditions

• Primary Mitochondrial Disease

Eligibility Criteria

Sex

ALL

Age

0 Years - 100 Years

Healthy Volunteers

Accepted

Study Details

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.

Key Dates

Start date

Mar 24, 2017

Status verified

Sep 2025

Primary completion

Mar 24, 2030

Completion

Mar 24, 2030

Study Design

Enrollment

1,300 participants (estimated)

Arms

• Arm: 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.
• Arm: Healthy Controls
  Males or females age 0-100 years of age with no history of mitochondrial myopathy symptoms.

Primary Outcome Measure

Muscle Strength of MM-COAST [ Time Frame: through study completion, an average of 5 years ]

Central Contacts

• Katelynn Stanley, BS
  267 426 4961
  [email protected]
• Jean Flickinger, PT
  267 426 4961
  [email protected]

Locations (1)

Find similar trials in Philadelphia, PA

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