Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT01694953

Conditions

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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)

Study ID

NCT01694953

Start date

Feb, 2013

Status verified date

Apr, 2025

Completion date

Dec, 2026

Anticipated

Primary completion date

Dec, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

20 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with MNGIE

Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study.

Primary outcome measure

  • Timed Water Swallow [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Kris Engelstad, MS

212-305-6834NAMDC@columbia.edu

Locations

Columbia University

Recruiting

New York, New York, United States, 10032

Contacts

Kris Engelstad, MS

212-305-6834ke4@columbia.edu

Principal Investigator:

Michio Hirano, MD

More Information

Sponsor

Columbia University

Last update posted

Apr 17, 2025

Last verified

Apr, 2025

Keywords

  • MNGIE
  • Mitochondrial
  • Mitochondrial Neurogastrointestinal encephalopathy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Columbia University on 2025-04-17.