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The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

The Rare Disease Clinical Research Network Natural History Study of MNGIE

Who can join

Ages 5 and older · All sexes

Inclusion 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.

Exclusion Criteria:

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

About the study

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.

Sponsor: Columbia University · Participants: 20 · Started: 2013-02

Contact the study team

• Kris Engelstad, MS · Phone: 212-305-6834

Official record on ClinicalTrials.gov — NCT01694953

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.