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An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)

Completed
Conditions
Primary Mitochondrial Disease
Registration Number
NCT03048617
Lead Sponsor
Stealth BioTherapeutics Inc.
Brief Summary

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.

Detailed Description

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.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
215
Inclusion Criteria
  • Willing and able to provide a signed informed consent form (ICF) prior to participation in any-trial related procedures
  • Patient has clinical presentation of PMD with either signs or symptoms suggestive of myopathy
  • Patient is ambulatory and able to attempt 6MWT
Exclusion Criteria
  • Patient has symptoms of PMD due to secondary mitochondrial dysfunction
  • Patient has had prior exposure to elamipretide
  • Patient does not have the cognitive capacity to understand and complete all study assessments
  • Patient has a medical history of severe renal impairment
  • History of active alcoholism or drug addiction during the year before enrollment

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease1 year
Secondary Outcome Measures
NameTimeMethod
Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease1 year

Trial Locations

Locations (33)

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

Scroll for more (23 remaining)
University of California San Diego
🇺🇸La Jolla, California, United States

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