NCT03048617

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.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
215

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Feb 2017

Typical duration for all trials

Geographic Reach
9 countries

33 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 3, 2017

Completed
6 days until next milestone

First Posted

Study publicly available on registry

February 9, 2017

Completed
4 days until next milestone

Study Start

First participant enrolled

February 13, 2017

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 2, 2018

Completed
7 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 7, 2019

Completed
Last Updated

April 11, 2019

Status Verified

April 1, 2019

Enrollment Period

1.5 years

First QC Date

February 3, 2017

Last Update Submit

April 9, 2019

Conditions

Keywords

Primary Mitochondrial DiseaseStealthMyopathyexercise intolerancemuscle painMitochondrial MyopathyPrimary Mitochondrial Myopathy

Outcome Measures

Primary Outcomes (2)

  • 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 Outcomes (1)

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

    1 year

Eligibility Criteria

Age16 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (33)

University of California San Diego

La Jolla, California, 92093, United States

Location

Stanford Universtity

Palo Alto, California, 94304, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Columbia University Medical Center

New York, New York, 10032, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104', United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

The University of Texas Health Science Center

Houston, Texas, 77030, United States

Location

University of Utah Hospital

Salt Lake City, Utah, 84132, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Calvary Health Care Bethlehem

Caulfield South, Victoria, Australia

Location

Royal North Shore Hospital

St Leonards, Australia

Location

University of Calgary Metabolic Disease Clinica

Calgary, Alberta, Canada

Location

McMaster University Medical Center

Hamilton, Ontario, Canada

Location

Adult Metabolic Diseases Clinic

Vancouver, Canada

Location

University of Copenhagen

Copenhagen, Denmark

Location

Klinikim der Universitat Muchen, Friedrich-Baur Institute

Munich, Bavaria, 80336, Germany

Location

University Hospital of Bonn

Bonn, 53105, Germany

Location

Institute of Genomic Medicine and Rare Disorders

Budapest, Hungary

Location

IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital

Bologna, Italy

Location

ASST Spedali Civili di Brescia

Brescia, Italy

Location

Azienda Ospedaliero Universitaria Policlinico G. Martino

Messina, 98125, Italy

Location

Istituto Nazionale Neurologico Carlo Besta

Milan, Italy

Location

Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli

Roma, 00168, Italy

Location

Dipartimento Ambientale di Neuroscienze

Roma, 56126, Italy

Location

Ospedale Pediatrico Bambin Gesu

Roma, Italy

Location

Hospital Universitario 12 de Octubre

Madrid, Spain

Location

Neurology Department Hospital Universitari i Politecnic La Fe

Valencia, 46026, Spain

Location

MRC Centre for Neuromuscular Diseases

London, United Kingdom

Location

Royal Victoria Infirmary

Newcastle upon Tyne, United Kingdom

Location

MeSH Terms

Conditions

Muscular DiseasesMyalgiaMitochondrial Myopathies

Condition Hierarchy (Ancestors)

Musculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesMusculoskeletal PainPainNeurologic ManifestationsSigns and SymptomsPathological Conditions, Signs and SymptomsMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 3, 2017

First Posted

February 9, 2017

Study Start

February 13, 2017

Primary Completion

August 2, 2018

Study Completion

March 7, 2019

Last Updated

April 11, 2019

Record last verified: 2019-04

Locations