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Natural History Study - Mitochondrial Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2016 by Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Darryl C. De Vivo, Columbia University Identifier:
First received: February 10, 2012
Last updated: August 10, 2016
Last verified: August 2016

February 10, 2012
August 10, 2016
July 2004
January 2020   (Final data collection date for primary outcome measure)
MRI/MRS [ Time Frame: 2-3 years ]
Evaluate structure and function in brain and muscle
Not Provided
Complete list of historical versions of study NCT01532791 on Archive Site
  • Biomarkers [ Time Frame: 2-3 years ]
    Evaluate various biomarkers of disease progression
  • Motor skills [ Time Frame: 2-3 years ]
    6 minute walk test to evaluate motor skills
  • Cognitive function [ Time Frame: 2-3 years ]
    Evaluate cognitive function through neuropsychological testing
  • Clinical symptoms [ Time Frame: 2-3 years ]
    Evaluate clinical symptoms through medical history questionnaires and physical exam
  • Mutation load [ Time Frame: 2-3 years ]
    Evaluate heteroplasmy through blood,urine and skin fibroblast evaluations
Not Provided
Not Provided
Not Provided
Natural History Study - Mitochondrial Disease
Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
Carriers of the m.3242A>G mutation often have clinical symptoms which 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. The focus of the current work is to evaluate known mutation carriers of the m.3243A>G (mitochondrial DNA) and their maternal relatives (carrier status not a requirement for participation). Paternal relatives will serve as controls. This study involves no treatment.
The purpose of this study is to investigate the neurological and biochemical consequences of the m.3243 A>G mutation. 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/urine tests, neurological exam, MRI/MRS, questionnaires, motor skills functioning, serum and urine biomarkers, 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
Carriers of the m.3243A>G mitochondrial DNA point mutation, and their maternal relatives (carrier status documentation not required.). All patients suspected of having an mtDNA point mutation regardless of age, health status, gender, race, or ethnicity will be evaluated. The minimal age of entry into the study will be 4 years or older. We will also evaluate controls (often these are married in relatives).
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Not Provided
  • mtDNA mutation
    m.3243 A>G carriers and their maternal relatives Other mutations in the mitochondrial genome may be included
  • Control
    controls (people not maternally related to mutation carriers) Preference is for married in relatives

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
January 2022
January 2020   (Final data collection date for primary outcome measure)

Inclusion Criteria:

Known carrier of a the m.3243 A>G mitochondrial mutation, ,or Maternally related to someone who carries the m.3243A>G mitochondrial mutation.

A family member who is not maternally related to someone who carries the m.3243A>G mitochondrial mutation

Exclusion Criteria:

  • Younger than 4 years of age
  • No confirmed m.3243 A>G mitochondrial DNA mutation in the family.
Sexes Eligible for Study: All
4 Years and older   (Child, Adult, Senior)
Contact: Kris Engelstad, MS 2123056834
Contact: Darryl De Vivo, MD 2123055244
United States
5P01HD032062 ( US NIH Grant/Contract Award Number )
Not Provided
When applicable, manuscript(s) regarding data will be submitted for publication
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
August 2016

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