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

This study is currently recruiting participants.
Verified May 2016 by Michio Hirano, Columbia University
Sponsor:
ClinicalTrials.gov Identifier:
NCT01694953
First Posted: September 27, 2012
Last Update Posted: August 9, 2016
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, Columbia University
  Purpose

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.


Condition
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 Michio Hirano, 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)
Groups/Cohorts
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.
  Eligibility

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.


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
Criteria

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
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 ClinicalTrials.gov identifier (NCT number): NCT01694953


Contacts
Contact: Kris Engelstad, MS 12123056834 NAMDC@columbia.edu

Locations
United States, New York
Columbia University Recruiting
New York City, New York, United States, 10032
Contact: Kris Engelstad, MS    212-305-6834    ke4@columbia.edu   
Principal Investigator: Michio Hirano, MD         
Sponsors and Collaborators
Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Michio Hirano, MD Columbia University
  More Information

Publications:
Responsible Party: Michio Hirano, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01694953     History of Changes
Other Study ID Numbers: AAAI5453
1U54NS078059 ( U.S. NIH Grant/Contract )
First Submitted: September 25, 2012
First Posted: September 27, 2012
Last Update Posted: August 9, 2016
Last Verified: May 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: When applicable manuscript (s) will be submitted

Keywords provided by Michio Hirano, Columbia University:
MNGIE
Mitochondrial
Mitochondrial Neurogastrointestinal encephalopathy

Additional relevant MeSH terms:
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases