The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

• Conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

• Registration Number: NCT01694953
• Lead Sponsor: Columbia University

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.

Detailed Description

The investigators will examine a total of 20 patients at six month intervals for up to five years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function and biochemical parameters.

Study Timeline

• Study First Submitted: 2012-09-25
• Study First Submitted QC: 2012-09-25
• Study First Posted: 2012-09-27
• Study Start: 2013-02
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-28
• Last Update Posted: 2022-08-01
• Primary Completion: 2024-08
• Study Completion: 2024-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 10

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.

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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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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Timed Water Swallow	5 years	The timed water swallow test evaluates the time it takes to swallow a small cup of water

Secondary Outcome Measures

Name	Time	Method
Degree of Neuropathy	5 years	A general neurological exam will be performed to assess the degree of neuropathy.

Trial Locations

Locations (1)

Columbia University; 🇺🇸 New York, New York, United States