Summary
In this study, we plan to examine a total of 20 patients with Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) at six month intervals for up to five years. We will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function, and biochemical parameters. We hope to learn more about the MNGIE disease as well as develop useful measures of disease status for use in future clinical trials.
For Diseases:
- Mitochondrial Neuro Gastro Intestinal Encephalomyopathy (MNGIE)
Background
Mitochondrial Neuro Gastro Intestinal Encephalomyopathy (MNGIE) is a rare and severe genetic disease. The onset of MNGIE is generally in the late teenage years. The major symptoms include: gastrointestinal symptoms (diarrhea, abdominal cramps, inability to eat normal size meals), weight loss, ptosis (droopy eyelids), reduced ability to move eyes, numbness, tingling, and weakness in the hands and feet. MNGIE is often fatal in adulthood.
MNGIE occurs when a person inherits two DNA mutations in the TYMP gene that encodes the protein thymidine phosphorylase (TP). With low or absent TP activity, thymidine and deoxyuridine build up to toxic levels, which in turn impair mitochondrial function (the ability of cells to produce energy). Disease symptoms develop when cells are not able to produce enough energy.
About this Study
This is a prospective, non-interventional, observational study, which means that no treatment is involved in the study. The goals are to learn about the natural history of MNGIE and to test at least one potential clinically relevant outcome measure for MNGIE which can be used in clinical trials.
We will study the natural history and laboratory features of MNGIE in 10-20 patients in order to learn about the progression of the disease. In this study, we will:
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Perform clinical assessments of patients with MNGIE every 6 months for 5 years.
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Conduct blood and laboratory tests to learn about how MNGIE affects participants
Participants will attend research visits at their enrolling site once every 6 months for a period of up to five years. These outpatient visits are estimated to take less than five hours each, during which the patient will be seen by the research team for evaluation and testing.
Target Enrollment
To be eligible to participate, you must:
- Be at least 5 years of age
- Have been diagnosed with TP defect: homozygous or compound heterozygous mutations in the TYMP gene, or TP enzyme activity of less than 20% of normal, increased plasma Thd more than 3, micromole/L, or increased plasma dUrd more than 7.5 micromole/L
You are not eligible to participate if:
- You are currently enrolled in an interventional (study medication or other experimental intervention) study or have been enrolled within 1 month of participation in this study.
- You are unable to travel to New York City for research visits.
- You are unwilling to sign the NAMDC consent.
- You are a substance abuser.
How to participate
In order to participate, you may contact the study coordinator.