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Study Description

Mitochondrial diseases are caused by dysfunction of the mitochondria, which are specialized compartments that are present in every cell of the body except red blood cells. Mitochondria generate more than 90% of the energy that the body needs to sustain life and support growth. When they fail, less and less energy is generated within the cell. This injures the cell and can cause its death. If this process is repeated throughout the body, whole organ systems begin to fail, and the life of the person in whom this is happening is severely compromised. Mitochondrial diseases primarily affect children, but adult onset is becoming more and more common.

Mitochondrial diseases are probably the most diverse human disorders at every level: clinical, biochemical, and genetic. Some affect only the nervous system but most affect many body systems, including the brain, heart, liver, skeletal muscles, kidney, and the endocrine and respiratory systems. Although mitochondrial disorders vary in severity, they are usually progressive, and often crippling. They can cause paralysis, seizures, mental retardation, dementia, hearing loss, blindness, weakness and premature death.

Because of the range of symptoms and the frequent involvement of multiple body systems, mitochondrial diseases can be a great challenge to diagnose. Even when accurately diagnosed, they pose an even more formidable challenge to treat, as there are very few therapies and most are only partially effective.

About this Study

The first objective of this study is to establish a clinical registry of patients with suspected or confirmed mitochondrial diseases. We are collecting medical and family history, diagnostic test results, and prospective medical information for these patients and, using agreed procedures developed by the leading research clinicians in the field, providing, for the first time, standardized diagnoses of these complex disorders for the patients. The clinical information we collect from the participants will be used to learn about the spectrum of mitochondrial disorders and their prevalence. We will also develop studies which allow us to better understand how these diseases progress, which we do not understand well enough. When we begin clinical trials for mitochondrial diseases, patients enrolled in the registry who are identified as potentially eligible will be offered enrollment. Patients will only be included in studies if they give their consent in advance.

The second objective of this study is to establish a biorepository for specimens and DNA from patients with mitochondrial diseases, in order to make materials easily available to consortium researchers.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Inclusion Criteria:

  • Patients who have been diagnosed with or are suspected of having a mitochondrial disorder.
  • Unaffected individuals with known mitochondrial DNA mutation (i.e. unaffected mutation carriers)

Exclusion Criteria:

  • Lack of known or suspected mitochondrial disease.

Study History

΢ Study Activated June 29, 2011

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
  • Study Chairs
    • Michio Hirano, MD. Columbia University Medical Center, New York, NY, USA.
  • Participating Site Principal Investigators
    • Bruce Cohen, MD. Akron Children's Hospital One Perkins Square Akron, OH, USA.
    • Fernando Scaglia, MD. Baylor College of Medicine Molecular and Human Genetics, Houston, TX, USA.
    • Douglas Kerr, MD, PhD. Case Western Reserve Departments of Genetics and Pediatrics, Cleveland, OH, USA.
    • Johan Van Hove, MD, PhD. Children's Hospital Colorado, CO, USA.
    • Marni J. Falk, MD. Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    • Andrea Gropman, MD. Children's National Medical Center, Washington, DC, USA.
    • Sumit Parikh, MD. Cleveland Clinic Main Campus, Cleveland, OH, USA.
    • Amel Karaa, MD. Massachusetts General Hospital, Boston, MA, USA.
    • Ralitza Gavrilova, MD. Mayo Clinic, Rochester, MN, USA.
    • Mark Tarnopolsky, MD. McMaster University Department of Neurology, Hamilton, ON, USA.
    • Russell Saneto, MD. Seattle Children's Hospital, Seattle, WA, USA.
    • Gregory M. Enns, MD. Stanford University, Stanford, CA, USA.
    • Richard Haas, MB., B Chir. University of California, San Diego, CA, USA.
    • Peter W. Stacpoole, MD, PhD. University of Florida, Gainesville, FL, USA.
    • Amy Goldstein, MD. University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
    • Jeffrey Krischer, PhD. Data Management and Coordinating Center, University of South Florida, Tampa, FL, USA.
  • Current Funding Sources
    • U54-HD061221-06. National Institutes of Health, Bethesda, MD, USA.