Columbia University
New York, 10032, United States
Location status: Recruiting
Recruiting
NCT Number: NCT01694953
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
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.
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Age range
5 year and older
Sex eligibility
All sexes
Study type
Observational
Primary location
About this 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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
- Thymidine Phosphorylase (TP) defect:
- homozygous or
- compound heterozygous mutations in the TYMP gene, and/or
- TP enzyme activity of <20% of normal.
- Increased plasma Thd > 3 micromole/L
- Increased plasma dUrd > 7.5 micromole/L
- Age requirement of at least 5 years of age.
Exclusion criteria
- Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
- Unable to travel to site for research visits.
- Unwillingness to sign informed consent form.
- Substance abuser
Treatment and study plan
Primary outcomes
-
Timed Water Swallow
Time frame: 5 years
The timed water swallow test evaluates the time it takes to swallow a small cup of water
Secondary outcomes
-
Degree of Neuropathy
Time frame: 5 years
A general neurological exam will be performed to assess the degree of neuropathy.
Other outcomes
-
Score on Mini Mental State Exam
Time frame: 5 years
A short assessment of cognitive function will be performed.
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Columbia University
Other
Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
Registry information
Official study title
The Rare Disease Clinical Research Network Natural History Study of MNGIE
Acronym: NAHIM
Important dates
- Study start
- 2013
- Primary completion
- 2026
- Study completion
- 2026
- First posted
- Sep 27, 2012
- Registry last updated
- Apr 17, 2025
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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