This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.
An observational study of patients with presumed Primary Mitochondrial Disease designed to better characterize and correlate symptoms and signs of myopathy and genetic test results and the use of commonly prescribed treatments. The study will help define and identify a subject population for a future trial of an investigational product to treat primary mitochondrial disease associated with signs and symptoms of myopathy.
Study Type
OBSERVATIONAL
Enrollment
215
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
Time frame: 1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease
Time frame: 1 year
Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease
Time frame: 1 year
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University of California San Diego
La Jolla, California, United States
Stanford Universtity
Palo Alto, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Massachusetts General Hospital
Boston, Massachusetts, United States
Columbia University Medical Center
New York, New York, United States
Akron Children's Hospital
Akron, Ohio, United States
Cleveland Clinic
Cleveland, Ohio, United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States
Baylor College of Medicine
Houston, Texas, United States
...and 23 more locations