The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Recruiting
Observational Study
Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 5 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 20 (estimated)
- Sponsor
- Columbia University · Other
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About This Trial
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.
Trial Locations
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Eligibility Criteria
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 …
Contacts