Understanding digestive issues in Mitochondrial Neurogastrointestinal Encephalomyopathy
Enteric Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Patients Detected by High-resolution
This study is trying to understand the digestive problems in people with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) by looking at how their stomach and intestines work.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 6 (estimated) |
| Sex | All |
| Sponsor | Hospital Universitari Vall d'Hebron Research Institute Academic / other |
| Locations | 1 site (Barcelona) |
| Trial ID | NCT05658822 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), an ultra-rare mitochondrial disease characterized by severe gastrointestinal dysmotility and various neurological symptoms. The study aims to identify the specific upper gastrointestinal motor dysfunctions in MNGIE patients and their relationship to clinical manifestations. Participants will undergo a thorough clinical evaluation and complete a structured questionnaire on digestive symptoms, followed by advanced assessments of the esophagus and small bowel motility. The findings could provide insights into the underlying mechanisms of gastrointestinal symptoms in MNGIE.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with MNGIE based on thymidine phosphorylase activity and mitochondrial mutation analysis.
Not a fit: Patients without a confirmed diagnosis of MNGIE or those with other gastrointestinal disorders unrelated to MNGIE may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of gastrointestinal dysmotility in MNGIE, potentially guiding future treatments.
How similar studies have performed: This study is novel as no previous research has been published on gastrointestinal motility in MNGIE.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * diagnosis of MNGIE disease established by thymidine phosphorylase activity and mitochondrial mutation analysis.
Where this trial is running
Barcelona
- Hospital Universitari Vall d'Hebron — Barcelona, Spain (Recruiting)
Study contacts
- Study coordinator: Carolina Malagelada, MD
- Email: cmalagelada@vhebron.net
- Phone: +34932746259
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.