The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

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.

Conditions

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

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Study Overview

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Study Details

Study overview

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.

The Rare Disease Clinical Research Network Natural History Study of MNGIE

The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Condition
Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Intervention / Treatment

-

Contacts and Locations

New York

Columbia University, New York, New York, United States, 10032

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Thymidine Phosphorylase (TP) defect:
  • 1. homozygous or
  • 2. compound heterozygous mutations in the TYMP gene, and/or
  • 3. TP enzyme activity of \<20% of normal.
  • 2. Increased plasma Thd \> 3 micromole/L
  • 3. Increased plasma dUrd \> 7.5 micromole/L
  • 4. Age requirement of at least 5 years of age.
  • 1. Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
  • 2. Unable to travel to site for research visits.
  • 3. Unwillingness to sign informed consent form.
  • 4. Substance abuser

Ages Eligible for Study

5 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Columbia University,

Michio Hirano, MD, PRINCIPAL_INVESTIGATOR, Columbia University

Study Record Dates

2025-03