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

Sponsor

Stealth BioTherapeutics Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT03048617

Collaborator

(none)

215

Enrollment

Locations

24.7

Actual Duration (Months)

6.5

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
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 Design

Study Type:

Observational

Actual Enrollment :

215 participants

Observational Model:

Case-Only

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Feb 13, 2017

Actual Primary Completion Date :

Aug 2, 2018

Actual Study Completion Date :

Mar 7, 2019

Outcome Measures

Primary Outcome Measures

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

Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease [1 year]

Eligibility Criteria

Criteria

Ages Eligible for Study:

16 Years to 80 Years

Sexes Eligible for Study:

All

Accepts 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of California San Diego	La Jolla	California	United States	92093
2	Stanford Universtity	Palo Alto	California	United States	94304
3	Children's Hospital Colorado	Aurora	Colorado	United States	80045
4	Massachusetts General Hospital	Boston	Massachusetts	United States	02114
5	Columbia University Medical Center	New York	New York	United States	10032
6	Akron Children's Hospital	Akron	Ohio	United States	44308
7	Cleveland Clinic	Cleveland	Ohio	United States	44195
8	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104'
9	Children's Hospital of Pittsburgh of UPMC	Pittsburgh	Pennsylvania	United States	15224
10	Baylor College of Medicine	Houston	Texas	United States	77030
11	The University of Texas Health Science Center	Houston	Texas	United States	77030
12	University of Utah Hospital	Salt Lake City	Utah	United States	84132
13	Seattle Children's Hospital	Seattle	Washington	United States	98105
14	Calvary Health Care Bethlehem	Caulfield South	Victoria	Australia
15	Royal North Shore Hospital	St Leonards		Australia
16	University of Calgary Metabolic Disease Clinica	Calgary	Alberta	Canada
17	McMaster University Medical Center	Hamilton	Ontario	Canada
18	Adult Metabolic Diseases Clinic	Vancouver		Canada
19	University of Copenhagen	Copenhagen		Denmark
20	Klinikim der Universitat Muchen, Friedrich-Baur Institute	Munich	Bavaria	Germany	80336
21	University Hospital of Bonn	Bonn		Germany	53105
22	Institute of Genomic Medicine and Rare Disorders	Budapest		Hungary
23	IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital	Bologna		Italy
24	ASST Spedali Civili di Brescia	Brescia		Italy
25	Azienda Ospedaliero Universitaria Policlinico G. Martino	Messina		Italy	98125
26	Istituto Nazionale Neurologico Carlo Besta	Milano		Italy
27	Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli	Roma		Italy	00168
28	Dipartimento Ambientale di Neuroscienze	Roma		Italy	56126
29	Ospedale Pediatrico Bambin Gesu	Roma		Italy
30	Hospital Universitario 12 de Octubre	Madrid		Spain
31	Neurology Department Hospital Universitari i Politecnic La Fe	Valencia		Spain	46026
32	MRC Centre for Neuromuscular Diseases	London		United Kingdom
33	Royal Victoria Infirmary	Newcastle upon Tyne		United Kingdom