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Digestive Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy

NCT05658822 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 6

Last updated 2022-12-21

No results posted yet for this study

Summary

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an ultra-rare mitochondrial disease caused by mutations of the gen that codifies the enzyme thymidine phosphorylase The genetic defect results in systemic accumulation of the nucleosides thymidine and deoxyuridine. Clinically MNGIE is characterized by a combination of gastrointestinal and neurological manifestations, including severe gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia and sensorimotor neuropathy. Gastrointestinal symptoms are the most frequent first manifestation of the disease, and include early satiety, nausea, dysphagia, postprandial emesis, abdominal pain, abdominal distention, and diarrhea. The disease is relentlessly progressive and the cause of death is primarily related to digestive dysmotility. However, the specific motor dysfunctions that produce the symptoms, i.e., the underlying mechanisms, remain uncertain.

Conditions

  • MNGIE
  • Dysmotility

Sponsors & Collaborators

  • Hospital Universitari Vall d'Hebron Research Institute

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-02-01
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • Spain

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 NCT05658822 on ClinicalTrials.gov