This is a multi-center natural history study of MNGIE (Mitochondrial NeurogastroIntestinal Encephalopathy). 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.
Primary Outcome Measures:
Secondary Outcome Measures:
| Estimated Enrollment:
| Study Start Date:
| Estimated Study Completion Date:
| Estimated Primary Completion Date:
||June 2020 (Final data collection date for primary outcome measure)
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.
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.