Digestive Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy
Enteric Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Patients Detected by High-resolution
1 other identifier
observational
6
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Feb 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 1, 2018
CompletedFirst Submitted
Initial submission to the registry
November 27, 2022
CompletedFirst Posted
Study publicly available on registry
December 21, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2025
CompletedDecember 21, 2022
November 1, 2022
7.8 years
November 27, 2022
December 17, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
intestinal motility at diagnosis
to assess the number of intestinal contractions (contractions per minute) during fasting and after the infusion of nutrients measured by high-resolution intestinal manometry
In patients included, in the first 30 days from diagnosis
intestinal motility at diagnosis
to assess the amplitude (mmHg) of contractions during fasting and after nutrients measured by high-resolution intestinal manometry
In patients included, in the first 30 days from diagnosis
Secondary Outcomes (2)
intestinal motility response to hepatic transplant
one and two years after hepatic transplant treatment
intestinal motility response to hepatic transplant
one and two years after hepatic transplant treatment
Eligibility Criteria
Patients diagnosed with MNGIE
You may qualify if:
- diagnosis of MNGIE disease established by thymidine phosphorylase activity and mitochondrial mutation analysis.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hospital Universitari Vall d'Hebron
Barcelona, 08035, Spain
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 27, 2022
First Posted
December 21, 2022
Study Start
February 1, 2018
Primary Completion
December 1, 2025
Study Completion
December 1, 2025
Last Updated
December 21, 2022
Record last verified: 2022-11
Data Sharing
- IPD Sharing
- Will not share