This is an observational study for people with Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE). Researchers want to learn more about how MNGIE affects people over time and find better ways to measure the disease. You may be able to join if you are at least 5 years old and have specific genetic changes (homozygous or compound heterozygous mutations in the TYMP gene) or low activity of an enzyme called Thymidine Phosphorylase (TP). You also need to have higher-than-normal levels of certain substances (plasma Thd and dUrd) in your blood. This study does not involve any new treatments or interventions. The main goal is to see how your ability to swallow water changes over five years. The current status of this study is unclear.

Study design

This is an observational study, meaning no new treatments are given. Researchers plan to follow 20 patients over time.

What's involved

You would have appointments every six months for up to five years. Researchers will check your digestion, body mass, nerve function, thinking abilities, quality of life, nutrition, movement, and blood tests.

Compensation

Not stated in the trial record.

Follow-up

Your ability to swallow water will be measured at 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.