Digestive Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy

Launched by HOSPITAL UNIVERSITARI VALL D'HEBRON RESEARCH INSTITUTE · Dec 17, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a rare condition called Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), which affects how the digestive system works and can cause serious problems like nausea, severe stomach pain, and difficulty swallowing. The trial aims to better understand the specific issues in the digestive system that lead to these symptoms, as these can significantly impact the quality of life for those affected.

To participate in this trial, individuals must have a confirmed diagnosis of MNGIE, which is usually established through specific tests that look for certain genetic changes and enzyme activity. The trial is currently recruiting participants of all ages and genders. If you join the study, you can expect to undergo assessments to help researchers learn more about the condition and its effects on the body. This information is crucial for developing better treatments for MNGIE in the future.

Gender

ALL

Eligibility criteria

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