Actively Recruiting
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Led by Columbia University · Updated on 2025-04-17
20
Participants Needed
1
Research Sites
721 weeks
Total Duration
On this page
Sponsors
C
Columbia University
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Thymidine Phosphorylase (TP) defect confirmed by homozygous or compound heterozygous mutations in the TYMP gene and/or TP enzyme activity less than 20% of normal
- Increased plasma thymidine (Thd) levels greater than 3 micromole/L
- Increased plasma deoxyuridine (dUrd) levels greater than 7.5 micromole/L
- Participant is at least 5 years old
You will not qualify if you...
- Participation in another interventional study within 1 month prior to this study
- Unable to travel to the research site for visits
- Unwillingness to sign the informed consent form
- Substance abuse
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Columbia University
New York, New York, United States, 10032
Actively Recruiting
Research Team
K
Kris Engelstad, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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