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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01694953
Recruitment Status : Unknown
Verified February 2019 by Michio Hirano, MD, Columbia University.
Recruitment status was:  Recruiting
First Posted : September 27, 2012
Last Update Posted : February 27, 2019
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

Brief Summary:

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.

Condition or disease
Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

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.

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Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Rare Disease Clinical Research Network Natural History Study of MNGIE
Study Start Date : February 2013
Estimated Primary Completion Date : June 2020
Estimated Study Completion Date : June 2020

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.

Primary Outcome Measures :
  1. 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 :
  1. Degree of Neuropathy [ Time Frame: 5 years ]
    A general neurological exam will be performed to assess the degree of neuropathy.

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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01694953

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Contact: Kris Engelstad, MS 212-305-6834

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United States, New York
Columbia University Recruiting
New York, 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)
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Principal Investigator: Michio Hirano, MD Columbia University
Additional Information:
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Responsible Party: Michio Hirano, MD, Professor of Neurology, Columbia University Identifier: NCT01694953    
Other Study ID Numbers: AAAI5453
1U54NS078059 ( U.S. NIH Grant/Contract )
First Posted: September 27, 2012    Key Record Dates
Last Update Posted: February 27, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: When applicable manuscript(s) will be submitted.
Time Frame: When applicable manuscript(s) will be submitted.
Access Criteria: Data included in manuscript(s).
Keywords provided by Michio Hirano, MD, Columbia University:
Mitochondrial Neurogastrointestinal encephalopathy
Additional relevant MeSH terms:
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Mitochondrial Encephalomyopathies
Intestinal Pseudo-Obstruction
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Intestinal Obstruction
Intestinal Diseases
Gastrointestinal Diseases
Digestive System Diseases
Mitochondrial Myopathies
Muscular Diseases
Musculoskeletal Diseases
Brain Diseases, Metabolic
Neuromuscular Diseases
Metabolic Diseases
Mitochondrial Diseases