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Natural History Study - Mitochondrial Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01532791
Recruitment Status : Recruiting
First Posted : February 15, 2012
Last Update Posted : April 17, 2020
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Columbia University

Tracking Information
First Submitted Date February 10, 2012
First Posted Date February 15, 2012
Last Update Posted Date April 17, 2020
Study Start Date July 2004
Estimated Primary Completion Date January 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 5, 2015)
MRI/MRS [ Time Frame: 2-3 years ]
Evaluate structure and function in brain and muscle
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: December 21, 2015)
  • 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
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Natural History Study - Mitochondrial Disease
Official Title Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
Brief Summary 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.
Detailed Description 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.
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   None Retained
skin fibroblast blood urine buccal cells hair samples
Sampling Method Non-Probability Sample
Study Population 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).
Condition MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Intervention Not Provided
Study Groups/Cohorts
  • 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
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 14, 2012)
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2023
Estimated Primary Completion Date January 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Ages 4 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contact: Kris Engelstad, MS 2123056834
Contact: Darryl De Vivo, MD 2123055244
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01532791
Other Study ID Numbers AAAB1425
5P01HD032062 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: When applicable, manuscript(s) regarding data will be submitted for publication
Responsible Party Columbia University
Study Sponsor Columbia University
Collaborators Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Darryl De Vivo, MD
PRS Account Columbia University
Verification Date April 2020