The Natural History Study of Mitochondrial NeuroGastroInt... | NCT01694953

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

NCT01694953

Sponsor

Columbia University

Status

Recruiting

Last Update Posted

Apr 17, 2025Actual

Enrollment

20Estimated

Phase

Not provided

Conditions

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
1U54NS078059	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2013Actual

Primary Completion Date

Dec 2026Estimated

Completion Date

Dec 2026Estimated

First Submitted Date

Sep 25, 2012

First Submission Date that Met QC Criteria

Sep 25, 2012

First Posted Date

Sep 27, 2012Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 14, 2025

Last Update Posted Date

Apr 17, 2025Actual

Name	Class
National Institute of Neurological Disorders and Stroke (NINDS)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

20Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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.

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Timed Water Swallow	The timed water swallow test evaluates the time it takes to swallow a small cup of water	5 years

Secondary Outcomes

Measure	Description	Time Frame
Degree of Neuropathy	A general neurological exam will be performed to assess the degree of neuropathy.	5 years

Other Outcomes

Measure	Description	Time Frame
Score on Mini Mental State Exam	A short assessment of cognitive function will be performed.	5 years

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.
Increased plasma Thd > 3 micromole/L
Increased plasma dUrd > 7.5 micromole/L
Age requirement of at least 5 years of age.

Exclusion Criteria:

Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
Unable to travel to site for research visits.
Unwillingness to sign informed consent form.
Substance abuser

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

5 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Male or female, At least 5 years of age, with Thymidine Phosphorylase defect

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Kris Engelstad, MS	Contact	212-305-6834		NAMDC@columbia.edu

Overall Officials

Name	Affiliation	Role
Michio Hirano, MD	Columbia University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Columbia University	Recruiting	New York	New York	10032	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
22215544	Background	Marti R, Lopez 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.