Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Natural History Study - Mitochondrial Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Columbia University
Information provided by (Responsible Party):
Darryl C. De Vivo, Columbia University Identifier:
First received: February 10, 2012
Last updated: July 29, 2013
Last verified: July 2013

February 10, 2012
July 29, 2013
July 2004
January 2018   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01532791 on Archive Site
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Natural History Study - Mitochondrial Disease
Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations

Patients with mitochondrial disorders often have clinical symptoms. This can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a "Natural History Study" to monitor these conditions over time so that physicians and scientists can not only understand the problems that patients have, but work on developing treatments. This study involves no treatment.

The purpose of this study is to investigate the neurological consequences of mutations in mitochondrial DNA, and the synthesis of energy. Mitochondria are the powerhouses of the cell and are controlled by nuclear genetic material (DNA) and mitochondrial (mt) DNA. Mitochondrial DNA mutations impair mitochondrial function, and cause cellular energy failure. These mutations, when present in high abundance, cause neurological signs and symptoms that are clinically obvious. The investigators hypothesize that these mutations, when present in lesser abundance, will cause measurable alterations in the patient's neuropsychological profile and cerebral energy profile. This study does not involve any experimental or approved therapy. The investigators will evaluate the patient's condition with blood tests, neurological exam, and genetic testing.

Observational Model: Case Control
Time Perspective: Prospective
Not Provided
Retention:   None Retained

skin fibroblast blood urine buccal cells hair samples

Non-Probability Sample

All patients who have a documented mtDNA point mutation. These mutations are genetically determined and transmitted through the maternal lineage. Therefore, we will focus on family clusters and concentrate on the maternal relatives including the mother and all siblings. We shall evaluate all patients suspected of having an mtDNA point mutation regardless of age, health status, gender, race, or ethnicity. The minimal age of entry into the study will be 6 years or older. We will also evaluate controls, or people do do not carry a mitochondrial mutation and are generally family members, not maternally related to a mtDNA mutation carrier

Mitochondrial DNA Mutation
Not Provided
  • mtDNA mutation
    controls patients carriers, or potential carriers of mtDNA mutation
  • Control
Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
January 2018
January 2018   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Control (generally a non maternally related relative)
  • carrier of a mitochondrial DNA mutation, or
  • maternally related to someone with a mitochondrial DNA mutation.

Exclusion Criteria:

  • Younger than 6 years of age
  • No confirmed mtDNA mutation in family
6 Years and older
Contact: Kris Engelstad, MS 2123056834
Contact: Darryl De Vivo, MD 2123055244
United States
AAAB1425, 5P01HD032062
Darryl C. De Vivo, Columbia University
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Darryl De Vivo, MD
Columbia University
July 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP