RecruitingNCT01694953
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
The Rare Disease Clinical Research Network Natural History Study of MNGIE
Sponsor
Columbia University
Enrollment
20 participants
Start Date
Feb 1, 2013
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Min Age: 5 Years
Inclusion Criteria7
- Thymidine Phosphorylase (TP) defect:
- homozygous or
- compound heterozygous mutations in the TYMP gene, and/or
- TP enzyme activity of \<20% of normal.
- Increased plasma Thd \> 3 micromole/L
- Increased plasma dUrd \> 7.5 micromole/L
- Age requirement of at least 5 years of age.
Exclusion Criteria4
- Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
- Unable to travel to site for research visits.
- Unwillingness to sign informed consent form.
- Substance abuser
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT01694953