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

A Prospective 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.

Study Overview

• Status: Completed
• Conditions: Primary Mitochondrial Disease

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.

• Study Type: Observational
• Enrollment (Actual): 215

Contacts and Locations

Study Locations

• Australia
  • St Leonards, Australia
    • Royal North Shore Hospital
  • Victoria
    • Caulfield South, Victoria, Australia
      • Calvary Health Care Bethlehem
• Canada
  • Vancouver, Canada
    • Adult Metabolic Diseases Clinic
  • Alberta
    • Calgary, Alberta, Canada
      • University of Calgary Metabolic Disease Clinica
  • Ontario
    • Hamilton, Ontario, Canada
      • McMaster University Medical Center
• Denmark
  • Copenhagen, Denmark
    • University of Copenhagen
• Germany
  • Bonn, Germany, 53105
    • University Hospital of Bonn
  • Bavaria
    • Munich, Bavaria, Germany, 80336
      • Klinikim der Universitat Muchen, Friedrich-Baur Institute
• Hungary
  • Budapest, Hungary
    • Institute of Genomic Medicine and Rare Disorders
• Italy
  • Bologna, Italy
    • IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital
  • Brescia, Italy
    • Asst Spedali Civili Di Brescia
  • Messina, Italy, 98125
    • Azienda Ospedaliero Universitaria Policlinico G. Martino
  • Milano, Italy
    • Istituto Nazionale Neurologico Carlo Besta
  • Roma, Italy, 00168
    • Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli
  • Roma, Italy, 56126
    • Dipartimento Ambientale di Neuroscienze
  • Roma, Italy
    • Ospedale Pediatrico Bambin Gesù
• Spain
  • Madrid, Spain
    • Hospital Universitario 12 de Octubre
  • Valencia, Spain, 46026
    • Neurology Department Hospital Universitari i Politecnic La Fe
• United Kingdom
  • London, United Kingdom
    • MRC Centre for Neuromuscular Diseases
  • Newcastle upon Tyne, United Kingdom
    • Royal Victoria Infirmary
• United States
  • California
    • La Jolla, California, United States, 92093
      • University of California San Diego
    • Palo Alto, California, United States, 94304
      • Stanford Universtity
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Children's Hospital Colorado
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
  • New York
    • New York, New York, United States, 10032
      • Columbia University Medical Center
  • Ohio
    • Akron, Ohio, United States, 44308
      • Akron Children's Hospital
    • Cleveland, Ohio, United States, 44195
      • Cleveland Clinic
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104'
      • The Children's Hospital of Philadelphia
    • Pittsburgh, Pennsylvania, United States, 15224
      • Children's Hospital of Pittsburgh of UPMC
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine
    • Houston, Texas, United States, 77030
      • The University of Texas Health Science Center
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • University of Utah Hospital
  • Washington
    • Seattle, Washington, United States, 98105
      • Seattle Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with clinical presentation of PMD with either signs or symptoms suggestive of myopathy

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome 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 Outcome Measures

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

Collaborators and Investigators

• Sponsor: Stealth BioTherapeutics Inc.

Study record dates

Study Major Dates

• Study Start (Actual): February 13, 2017
• Primary Completion (Actual): August 2, 2018
• Study Completion (Actual): March 7, 2019

Study Registration Dates

• First Submitted: February 3, 2017
• First Submitted That Met QC Criteria: February 6, 2017
• First Posted (Estimate): February 9, 2017

Study Record Updates

• Last Update Posted (Actual): April 11, 2019
• Last Update Submitted That Met QC Criteria: April 9, 2019
• Last Verified: April 1, 2019

More Information

Terms related to this study

• Keywords: muscle pain; exercise intolerance; Myopathy; Primary Mitochondrial Disease; Stealth; Mitochondrial Myopathy; Primary Mitochondrial Myopathy
• Additional Relevant MeSH Terms: Metabolic Diseases; Mitochondrial Diseases
• Other Study ID Numbers: SPIMM-300