The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

The Rare Disease Clinical Research Network Natural History Study of MNGIE

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01694953

Acronym

NAHIM

Enrollment

Registered

2012-09-27

Start date

2013-02-28

Completion date

2026-12-31

Last updated

2025-04-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Keywords

MNGIE, Mitochondrial, Mitochondrial Neurogastrointestinal encephalopathy

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.

Detailed description

The investigators will examine a total of 20 patients at six month intervals for up to five years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function and biochemical parameters.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Timed Water Swallow	5 years	The timed water swallow test evaluates the time it takes to swallow a small cup of water

Secondary

Measure	Time frame	Description
Degree of Neuropathy	5 years	A general neurological exam will be performed to assess the degree of neuropathy.

Other

Measure	Time frame	Description
Score on Mini Mental State Exam	5 years	A short assessment of cognitive function will be performed.

Countries

United States

Contacts

Primary ContactKris Engelstad, MS

NAMDC@columbia.edu212-305-6834

Outcome results