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

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ClinicalTrials.gov 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
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

Tracking Information
First Submitted Date September 25, 2012
First Posted Date September 27, 2012
Last Update Posted Date February 27, 2019
Study Start Date February 2013
Estimated Primary Completion Date June 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 11, 2013)
Timed Water Swallow [ Time Frame: 5 years ]
The timed water swallow test evaluates the time it takes to swallow a small cup of water
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: July 11, 2013)
Degree of Neuropathy [ Time Frame: 5 years ]
A general neurological exam will be performed to assess the degree of neuropathy.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures
 (submitted: July 11, 2013)
Score on Mini Mental State Exam [ Time Frame: 5 years ]
A short assessment of cognitive function will be performed.
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Official Title The Rare Disease Clinical Research Network Natural History Study of MNGIE
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.

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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Male or female, At least 5 years of age, with Thymidine Phosphorylase defect
Condition Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Intervention Not Provided
Study 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.
Publications * Martí R, López LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: August 8, 2016)
10
Original Estimated Enrollment
 (submitted: September 25, 2012)
20
Estimated Study Completion Date June 2020
Estimated Primary Completion Date June 2020   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 5 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01694953
Other Study ID Numbers AAAI5453
1U54NS078059 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
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).
Responsible Party Michio Hirano, MD, Columbia University
Study Sponsor Columbia University
Collaborators National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Michio Hirano, MD Columbia University
PRS Account Columbia University
Verification Date February 2019