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Evolution of Nutritional Status and Intestinal Function in Patients With MNGIE

NCT06784453 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 8

Last updated 2025-01-20

No results posted yet for this study

Summary

Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare disease characterized by severe gastrointestinal and neurological dysfunction. Its prevalence is 1-9 caIt is a genetic syndrome, with autosomal recessive inheritance, due to mutations in the nuclear gene TYMP (located on chromosome 22q13.32-qter) which encodes the protein thymidine phosphorylase (TP), an enzyme involved in the phosphorylation of the thymidine nucleoside. These mutations result in a significant reduction or complete absence of the enzyme's activity. There is therefore an increase in plasma levels of thymidine and its metabolites, thymidine nucleoside (dThd) and deoxyuridine (dUrd), with toxic accumulation both at a systemic and tissue level, which induces damage and depletion of mitochondrial DNA (mtDNA), multiple deletions and point mutationsses per 1000,000. It is included in the portal of rare diseases and orphan drugs. This syndrome is characterized by severe gastrointestinal and neurological disorders. Gastrointestinal symptoms are the main manifestation of the disease. They are present in 57% of cases at onset and in 100% of cases at diagnosis. Patients present with diarrhea, abdominal pain, borborygmi, vomiting, symptoms of intestinal pseudo-obstruction (32%-65% of cases), weight loss and cachexia (100% of cases). The symptoms, due to the progressive accumulation of metabolites toxic to mitochondrial DNA, are cumulative and evolutionary over time. The available therapeutic options (peritoneal dialysis, platelet infusion and enzyme replacement therapy) are unable to produce lasting clinical improvement. The drastic reduction in weight, resulting from the inability of patients to eat effectively orally, requires the use of home parenteral nutrition (NPD) in almost all cases.

The objective of the study is to describe the evolution of the nutritional status and intestinal function during the course of the disease in patients with MNGIE.

Conditions

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Loris Pironi, MD, PhD · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-10-01
Primary Completion
2024-08-31
Completion
2024-08-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06784453 on ClinicalTrials.gov