Natural History Study - Mitochondrial Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Columbia University
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Darryl C. De Vivo, Columbia University
ClinicalTrials.gov Identifier:
NCT01532791
First received: February 10, 2012
Last updated: July 29, 2013
Last verified: July 2013
  Purpose

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.


Condition
Mitochondrial DNA Mutation

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations

Resource links provided by NLM:


Further study details as provided by Columbia University:

Biospecimen Retention:   None Retained

skin fibroblast blood urine buccal cells hair samples


Estimated Enrollment: 300
Study Start Date: July 2004
Estimated Study Completion Date: January 2018
Estimated Primary Completion Date: January 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
mtDNA mutation
controls patients carriers, or potential carriers of mtDNA mutation
Control

Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01532791

Contacts
Contact: Kris Engelstad, MS 2123056834 ke4@columbia.edu
Contact: Darryl De Vivo, MD 2123055244 melas@columbia.edu

Locations
United States, New York
Columbia University Recruiting
New York City, New York, United States, 10032
Contact: Kris Engelstad, MS    212-305-6834    ke4@columbia.edu   
Sponsors and Collaborators
Columbia University
Investigators
Principal Investigator: Darryl De Vivo, MD dcd1@columbia.edu
  More Information

Additional Information:
No publications provided

Responsible Party: Darryl C. De Vivo, Sidney Carter Professor of Neurology and Professor of Pediatrics, Columbia University
ClinicalTrials.gov Identifier: NCT01532791     History of Changes
Other Study ID Numbers: AAAB1425, 5P01HD032062
Study First Received: February 10, 2012
Last Updated: July 29, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
MELAS
MERRF
NARP
mitochondrial DNA mutation
mtDNA mutation
mitochondrial DNA
mitochondria

Additional relevant MeSH terms:
Mitochondrial Diseases
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Muscular Diseases
Musculoskeletal Diseases
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neuromuscular Diseases
Metabolic Diseases

ClinicalTrials.gov processed this record on July 23, 2014