RECRUITING

Natural History Study - Mitochondrial Disease

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations

Quick Facts

Study Start:2004-07
Study Completion:2025-07
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01532791

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:4 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. * Younger than 4 years of age
  2. * No confirmed m.3243 A\>G mitochondrial DNA mutation in the family.

Contacts and Locations

Study Contact

Kris Engelstad, MS
CONTACT
2123056834
ke4@cumc.columbia.edu
Darryl De Vivo, MD
CONTACT
2123055244
dcd1@cumc.columbia.edu

Principal Investigator

Darryl De Vivo, MD
PRINCIPAL_INVESTIGATOR
dcd1@columbia.edu

Study Locations (Sites)

Columbia University
New York, New York, 10032
United States

Collaborators and Investigators

Sponsor: Columbia University

  • Darryl De Vivo, MD, PRINCIPAL_INVESTIGATOR, dcd1@columbia.edu

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2004-07
Study Completion Date2025-07

Study Record Updates

Study Start Date2004-07
Study Completion Date2025-07

Terms related to this study

Keywords Provided by Researchers

  • MELAS
  • mitochondrial DNA mutation
  • mtDNA mutation
  • mitochondrial DNA
  • mitochondria
  • m.3243A>G mutation

Additional Relevant MeSH Terms

  • MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier