NCT01694953 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
| NCT ID | NCT01694953 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Columbia University |
| Condition | Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) |
| Study Type | OBSERVATIONAL |
| Enrollment | 20 participants |
| Start Date | 2013-02 |
| Primary Completion | 2026-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 20 participants in total. It began in 2013-02 with a primary completion date of 2026-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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 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
Contact & Investigator
Michio Hirano, MD
PRINCIPAL INVESTIGATOR
Columbia University
Frequently Asked Questions
Who can join the NCT01694953 clinical trial?
This trial is open to participants of all sexes, aged 5 Years or older, studying Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01694953 currently recruiting?
Yes, NCT01694953 is actively recruiting participants. Contact the research team at NAMDC@columbia.edu for enrollment information.
Where is the NCT01694953 trial being conducted?
This trial is being conducted at New York, United States.
Who is sponsoring the NCT01694953 clinical trial?
NCT01694953 is sponsored by Columbia University. The principal investigator is Michio Hirano, MD at Columbia University. The trial plans to enroll 20 participants.