The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) (NAHIM)
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.
Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||The Rare Disease Clinical Research Network Natural History Study of MNGIE|
- Timed Water Swallow [ Time Frame: 5 years ] [ Designated as safety issue: No ]The timed water swallow test evaluates the time it takes to swallow a small cup of water
- Degree of Neuropathy [ Time Frame: 5 years ] [ Designated as safety issue: No ]A general neurological exam will be performed to assess the degree of neuropathy.
- Score on Mini Mental State Exam [ Time Frame: 5 years ] [ Designated as safety issue: No ]A short assessment of cognitive function will be performed.
|Study Start Date:||February 2013|
|Estimated Study Completion Date:||June 2020|
|Estimated Primary Completion Date:||June 2020 (Final data collection date for primary outcome measure)|
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.
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.
|Contact: Johnston Grier, BS||12123423671||NAMDC@columbia.edu|
|Contact: Kris Engelstad, MS||12123056834||NAMDC@columbia.edu|
|United States, New York|
|New York City, New York, United States, 10032|
|Contact: Kris Engelstad, MS 212-305-6834 firstname.lastname@example.org|
|Principal Investigator: Michio Hirano, MD|
|Principal Investigator:||Michio Hirano, MD||Columbia University|