Observing the progression of Mitochondrial NeuroGastroIntestinal Encephalopathy
The Rare Disease Clinical Research Network Natural History Study of MNGIE
This study is following 20 patients with Mitochondrial NeuroGastroIntestinal Encephalopathy for up to five years to see how their symptoms change over time and to learn more about the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 5 Years and up |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT01694953 on ClinicalTrials.gov |
What this trial studies
This observational study aims to follow patients with Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) over a period of up to five years, assessing various clinical symptoms and disease progression. A total of 20 patients will be evaluated at six-month intervals, focusing on gastrointestinal function, lean body mass, neuropathy, neuropsychological capabilities, quality of life, nutrition, motor function, and biochemical parameters. The goal is to gain insights into the natural history of MNGIE and develop useful measures for future clinical trials.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 5 years and older with specific genetic mutations or enzyme activity related to Thymidine Phosphorylase defects.
Not a fit: Patients who are unable to travel to the study site or have participated in other interventional studies within the last month may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of MNGIE and improve future treatment strategies for patients.
How similar studies have performed: While this study focuses on the natural history of MNGIE, similar observational studies have successfully contributed to understanding other rare diseases, indicating potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
New York, New York
- Columbia University — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Michio Hirano, MD — Columbia University
- Study coordinator: Kris Engelstad, MS
- Email: NAMDC@columbia.edu
- Phone: 212-305-6834
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.