NCT01694953Recruiting

The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Columbia University

Start Date

2/1/2013

Completion Date

12/1/2026

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.

Eligibility Criteria

Age Range: 5 years to No maximum

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

Interested in This Trial?

Contact the trial locations directly using the information below to learn more about enrollment.

Expressing interest lets you review the study and consent before we connect you with the research site.

Conditions

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Locations

Columbia University

New York, New York 10032

United States