The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) (NAHIM)

Columbia University

Status: Enrolling

Conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT01694953

1U54NS078059 (U.S. NIH Grant/Contract)

AAAI5453

Details and patient eligibility

About

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.

Full 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.

Enrollment: 20 estimated patients

Sex: All

Ages: 5+ years old

Volunteers: No 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

Trial design

20 participants in 1 patient group

Patients with MNGIE

Description:

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.