The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Clinical Trial

— NAHIM  

Official title:

The Rare Disease Clinical Research Network Natural History Study of MNGIE

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01694953
• Other study ID #: AAAI5453
• Secondary ID: 1U54NS078059
• Status: Recruiting
• Start date: February 2013
• Est. completion date: August 2024

Study information

• Verified date: July 2022
• Source: Columbia University
• Contact: Kris Engelstad, MS
• Phone: 212-305-6834
• Email: NAMDC[@]columbia.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10
• Est. completion date: August 2024
• Est. primary completion date: August 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Brain Diseases
• Intestinal Pseudo-Obstruction
• Mitochondrial Encephalomyopathies
• Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

Locations

Country	Name	City	State
United States	Columbia University	New York	New York

Sponsors (2)

Lead Sponsor	Collaborator
Columbia University	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Score on Mini Mental State Exam	A short assessment of cognitive function will be performed.	5 years
Primary	Timed Water Swallow	The timed water swallow test evaluates the time it takes to swallow a small cup of water	5 years
Secondary	Degree of Neuropathy	A general neurological exam will be performed to assess the degree of neuropathy.	5 years

External Links

•   Rare Disease Clinical Research Network, NIH