Digestive Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy

MNGIE Clinical Trial

Official title:

Enteric Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Patients Detected by High-resolution

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05658822
• Other study ID #: PR(AG)56/2018E
• Status: Recruiting
• Start date: February 1, 2018
• Est. completion date: December 2025

Study information

• Verified date: November 2022
• Source: Hospital Universitari Vall d'Hebron Research Institute
• Contact: Carolina Malagelada, MD
• Phone: +34932746259
• Email: cmalagelada[@]vhebron.net
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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, because so far, no studies on gastrointestinal motility in MNGIE have been published. The aims of this study were to identify the upper GI motor dysfunction in MNGIE patients, and to determine their relation to the clinical manifestations. Since the life-threatening consequences of the disease involve the upper gastrointestinal tract, all patients, after a thorough clinical and neurological evaluation, fulfilled a structured clinical questionnaire on digestive manifestations, and underwent state-of-the-art evaluation of the esophagus and the small bowel by high-resolution manometry (HRM), and gastric emptying by scintigraphy

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 6
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• diagnosis of MNGIE disease established by thymidine phosphorylase activity and mitochondrial mutation analysis.

Related Conditions & MeSH terms

• MNGIE

Locations

Country	Name	City	State
Spain	Hospital Universitari Vall d'Hebron	Barcelona

Sponsors (1)

Lead Sponsor	Collaborator
Hospital Universitari Vall d'Hebron Research Institute

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	intestinal motility response to hepatic transplant	to assess changes in the number of intestinal contractions (contractions per minute) during fasting and after the infusion of nutrients measured by high-resolution intestinal manometry after hepatic transplant	one and two years after hepatic transplant treatment
Secondary	intestinal motility response to hepatic transplant	to assess the amplitude of intestinal contractions during fasting and after the infusion of Amplitude (mmHg) of contractions during fasting and after nutrients measured by high-resolution intestinal manometry after hepatic transplant	one and two years after hepatic transplant treatment