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.
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 Type
OBSERVATIONAL
Enrollment
20
Columbia University
New York, New York, United States
RECRUITINGTimed Water Swallow
The timed water swallow test evaluates the time it takes to swallow a small cup of water
Time frame: 5 years
Degree of Neuropathy
A general neurological exam will be performed to assess the degree of neuropathy.
Time frame: 5 years
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