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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03048617

Acronym

RePOWER

Enrollment

215

Registered

2017-02-09

Start date

2017-02-13

Completion date

2019-03-07

Last updated

2019-04-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Mitochondrial Disease

Keywords

Primary Mitochondrial Disease, Stealth, Myopathy, exercise intolerance, muscle pain, Mitochondrial Myopathy, Primary Mitochondrial Myopathy

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

16 Years to 80 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease	1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease	1 year

Secondary

Measure	Time frame
Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease	1 year

Countries

Australia, Canada, Denmark, Germany, Hungary, Italy, Spain, United Kingdom, United States

Outcome results