The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE). Basic parameters: from 5 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
The Rare Disease Clinical Research Network Natural History Study of MNGIE
Overview
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.
Primary outcome measures
- Timed Water Swallow [Time frame: 5 years]
Secondary outcome measures (1)
- Degree of Neuropathy [Time frame: 5 years]
Eligibility criteria
Inclusion criteria
- Thymidine Phosphorylase (TP) defect:
- homozygous or
- compound heterozygous mutations in the TYMP gene, and/or
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Columbia University — New York
Publications
- 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. PMID 22215544
Identifiers
NCT: NCT01694953 · AAAI5453 · 1U54NS078059