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

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.

Completed

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Key information

Conditions

Primary Mitochondrial Disease Metabolic Diseases Mitochondrial Diseases Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Musculoskeletal Pain Myalgia Nervous System Diseases Neurologic Manifestations Neuromuscular Diseases Nutritional and Metabolic Diseases Pain Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

16 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Calvary Health Care Bethlehem, Caulfield South, Victoria, Australia

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

Secondary outcomes

Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease

Time frame: 1 year

Sponsors and collaborators

Lead sponsor

Stealth BioTherapeutics Inc.

Industry

Registry information

Official study title

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

Acronym: RePOWER

Important dates

Study start: 2017
Primary completion: 2018
Study completion: 2019
First posted: Feb 9, 2017
Registry last updated: Apr 11, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed