Clinical Trial: Natural History Study - Mitochondrial Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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 Summary: 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.
Sponsor: Columbia University

Current Primary Outcome: MRI/MRS [ Time Frame: 2-3 years ]

Evaluate structure and function in brain and muscle


Original Primary Outcome:

Current Secondary Outcome:

  • 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:

Information By: Columbia University

Dates:
Date Received: February 10, 2012
Date Started: July 2004
Date Completion: January 2022
Last Updated: August 10, 2016
Last Verified: August 2016