Clinical Trial: The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The Rare Disease Clinical Research Network Natural History Study of MNGIE

Brief Summary:

This is a multi-center natural history study of MNGIE (Mitochondrial NeurogastroIntestinal Encephalopathy). 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 Summary: 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.
Sponsor: Columbia University

Current Primary Outcome: Timed Water Swallow [ Time Frame: 5 years ]

The timed water swallow test evaluates the time it takes to swallow a small cup of water


Original Primary Outcome:

Current Secondary Outcome: Degree of Neuropathy [ Time Frame: 5 years ]

A general neurological exam will be performed to assess the degree of neuropathy.


Original Secondary Outcome:

Information By: Columbia University

Dates:
Date Received: September 25, 2012
Date Started: February 2013
Date Completion: June 2020
Last Updated: August 8, 2016
Last Verified: May 2016