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The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Recruitingn/aAges 5 Years - anyAllColumbia University
NCT01694953 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
Columbia University
New York, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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