The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-02-28

Study Completion Date

2026-12-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with MNGIE

Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study.

No interventions assigned to this group

Eligibility Criteria

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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

Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No