The Rare Disease Clinical Research Network Natural History Study of MNGIE
Columbia University
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.
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
- Age range
- 5+ years
- Sex
- All
- Healthy volunteers
- No
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…
Location
- Columbia UniversityNew York, New York