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

This study is currently recruiting participants.
Verified July 2013 by Columbia University
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Michio Hirano, Columbia University
ClinicalTrials.gov Identifier:
NCT01694953
First received: September 25, 2012
Last updated: July 11, 2013
Last verified: July 2013
  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 Columbia University:

Primary Outcome Measures:
  • 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


Secondary Outcome Measures:
  • 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.


Other Outcome Measures:
  • Score on Mini Mental State Exam [ Time Frame: 5 years ] [ Designated as safety issue: No ]
    A short assessment of cognitive function will be performed.


Estimated Enrollment: 20
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

Ages Eligible for Study:   5 Years and older
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01694953

Contacts
Contact: Johnston Grier, BS 12123423671 NAMDC@columbia.edu
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
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
Study First Received: September 25, 2012
Last Updated: July 11, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
MNGIE
Mitochondrial
Mitochondrial Neurogastrointestinal encephalopathy

Additional relevant MeSH terms:
Brain Damage, Chronic
Delirium
Encephalitis
Hepatic Encephalopathy
Neurotoxicity Syndromes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Confusion
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Central Nervous System Viral Diseases
Virus Diseases
Central Nervous System Infections
Liver Failure
Hepatic Insufficiency
Liver Diseases
Digestive System Diseases
Brain Diseases, Metabolic
Metabolic Diseases
Poisoning
Substance-Related Disorders

ClinicalTrials.gov processed this record on April 22, 2014