An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
- 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
- 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
- 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
Name Time Method Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease 1 year Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease 1 year
- Secondary Outcome Measures
Name Time Method Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease 1 year
Trial Locations
- Locations (33)
University of California San Diego
🇺🇸La Jolla, California, United States
Klinikim der Universitat Muchen, Friedrich-Baur Institute
🇩🇪Munich, Bavaria, Germany
Massachusetts General Hospital
🇺🇸Boston, Massachusetts, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
Children's Hospital Colorado
🇺🇸Aurora, Colorado, United States
Stanford Universtity
🇺🇸Palo Alto, California, United States
Columbia University Medical Center
🇺🇸New York, New York, United States
Akron Children's Hospital
🇺🇸Akron, Ohio, United States
The Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Children's Hospital of Pittsburgh of UPMC
🇺🇸Pittsburgh, Pennsylvania, United States
University of Utah Hospital
🇺🇸Salt Lake City, Utah, United States
The University of Texas Health Science Center
🇺🇸Houston, Texas, United States
Royal North Shore Hospital
🇦🇺St Leonards, Australia
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States
Calvary Health Care Bethlehem
🇦🇺Caulfield South, Victoria, Australia
University of Calgary Metabolic Disease Clinica
🇨🇦Calgary, Alberta, Canada
Adult Metabolic Diseases Clinic
🇨🇦Vancouver, Canada
McMaster University Medical Center
🇨🇦Hamilton, Ontario, Canada
ASST Spedali Civili di Brescia
🇮🇹Brescia, Italy
University Hospital of Bonn
🇩🇪Bonn, Germany
Institute of Genomic Medicine and Rare Disorders
🇭🇺Budapest, Hungary
Azienda Ospedaliero Universitaria Policlinico G. Martino
🇮🇹Messina, Italy
Istituto Nazionale Neurologico Carlo Besta
🇮🇹Milano, Italy
Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli
🇮🇹Roma, Italy
Dipartimento Ambientale di Neuroscienze
🇮🇹Roma, Italy
Ospedale Pediatrico Bambin Gesu
🇮🇹Roma, Italy
Hospital Universitario 12 de Octubre
🇪🇸Madrid, Spain
Neurology Department Hospital Universitari i Politecnic La Fe
🇪🇸Valencia, Spain
MRC Centre for Neuromuscular Diseases
🇬🇧London, United Kingdom
Royal Victoria Infirmary
🇬🇧Newcastle upon Tyne, United Kingdom
University of Copenhagen
🇩🇰Copenhagen, Denmark
IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital
🇮🇹Bologna, Italy
Cleveland Clinic
🇺🇸Cleveland, Ohio, United States