Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) (NAHIM)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2016 by Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, Columbia University Identifier:
First received: September 25, 2012
Last updated: August 8, 2016
Last verified: May 2016

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 Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Rare Disease Clinical Research Network Natural History Study of MNGIE

Resource links provided by NLM:

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • Degree of Neuropathy [ Time Frame: 5 years ]
    A general neurological exam will be performed to assess the degree of neuropathy.

Other Outcome Measures:
  • Score on Mini Mental State Exam [ Time Frame: 5 years ]
    A short assessment of cognitive function will be performed.

Estimated Enrollment: 10
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.

Detailed Description:
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.

Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male or female, At least 5 years of age, with Thymidine Phosphorylase defect

Inclusion Criteria:

  1. Thymidine Phosphorylase (TP) defect:

    1. homozygous or
    2. compound heterozygous mutations in the TYMP gene, and/or
    3. TP enzyme activity of <20% of normal.
  2. Increased plasma Thd > 3 micromole/L
  3. Increased plasma dUrd > 7.5 micromole/L
  4. Age requirement of at least 5 years of age.

Exclusion Criteria:

  1. Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
  2. Unable to travel to site for research visits.
  3. Unwillingness to sign informed consent form.
  4. Substance abuser
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01694953

Contact: Kris Engelstad, MS 12123056834

United States, New York
Columbia University Recruiting
New York City, New York, United States, 10032
Contact: Kris Engelstad, MS    212-305-6834   
Principal Investigator: Michio Hirano, MD         
Sponsors and Collaborators
Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Michio Hirano, MD Columbia University
  More Information

Responsible Party: Michio Hirano, Professor of Neurology, Columbia University Identifier: NCT01694953     History of Changes
Other Study ID Numbers: AAAI5453
1U54NS078059 ( US NIH Grant/Contract Award Number )
Study First Received: September 25, 2012
Last Updated: August 8, 2016
Individual Participant Data  
Plan to Share IPD: Yes
Plan Description: When applicable manuscript (s) will be submitted

Keywords provided by Columbia University:
Mitochondrial Neurogastrointestinal encephalopathy

Additional relevant MeSH terms:
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases processed this record on April 26, 2017