RECRUITING

The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

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

This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical trials. Additional clinical centers will be listed as they become available.

Official Title

The Rare Disease Clinical Research Network Natural History Study of MNGIE

Quick Facts

Study Start:2013-02
Study Completion:2025-03
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01694953

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:5 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Thymidine Phosphorylase (TP) defect:
  2. 1. homozygous or
  3. 2. compound heterozygous mutations in the TYMP gene, and/or
  4. 3. TP enzyme activity of \<20% of normal.
  5. 2. Increased plasma Thd \> 3 micromole/L
  6. 3. Increased plasma dUrd \> 7.5 micromole/L
  7. 4. Age requirement of at least 5 years of age.
  1. 1. Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
  2. 2. Unable to travel to site for research visits.
  3. 3. Unwillingness to sign informed consent form.
  4. 4. Substance abuser

Contacts and Locations

Study Contact

Kris Engelstad, MS
CONTACT
212-305-6834
NAMDC@columbia.edu

Principal Investigator

Michio Hirano, MD
PRINCIPAL_INVESTIGATOR
Columbia University

Study Locations (Sites)

Columbia University
New York, New York, 10032
United States

Collaborators and Investigators

Sponsor: Columbia University

  • Michio Hirano, MD, PRINCIPAL_INVESTIGATOR, Columbia University

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 Date2013-02
Study Completion Date2025-03

Study Record Updates

Study Start Date2013-02
Study Completion Date2025-03

Terms related to this study

Keywords Provided by Researchers

  • MNGIE
  • Mitochondrial
  • Mitochondrial Neurogastrointestinal encephalopathy

Additional Relevant MeSH Terms

  • Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)