Gastrointestinal symptoms / QOL in patients with MEN2A and 2B
Research type
Research Study
Full title
Improving the impact of gastrointestinal symptoms on quality of life in patients with multiple endocrine neoplasia type 2A and 2B
IRAS ID
293447
Contact name
Maralyn Rose Druce
Contact email
Sponsor organisation
Queen Mary University of London (Queen Mary)
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Multiple endocrine neoplasia type 2 comprises a group of inherited syndromes that are linked together by abnormalities in a single gene called RET. The way in which the RET gene is altered is linked to the kinds of problems that each patient develops. The RET gene is also involved with the development of the nerves that supply that gut and therefore RET gene abnormalities might be expected to cause some gut symptoms and problems. We already know that patients with MEN2 report that they have lower quality of life (QOL) than other people without the condition and a recent international patient survey suggested that gut symptoms are part of the reason for this. However, surveys tend to be answered by people who are already suffering so can be biased about the scale of the problem.
This study applies questionnaires similar to those used in the survey to all patients with MEN2 attending a specialist hospital clinic. All patients whose answers show that they have gut symptoms or impact from these on quality of life will be referred to a neurogastroenterology clinic for detailed clinical evaluation, followed by treatment if indicated. Patients with MEN2 will also be offered a mobile app to capture details about various aspects of quality of life and symptoms as well as their treatment and interaction with the healthcare team.
This to work out how we might best investigate gut symptoms in patients with MEN2 and to see if these can be predicted by other aspects of the disease, such as the particular genetic abnormality. We hope to determine whether investigation of GI symptoms, tailored GI management and regular monitoring of symptoms helps improve patients’ GI symptoms and QOL. If so it will help us create a better pathway or guideline for how to manage these conditions.
REC name
Wales REC 7
REC reference
22/WA/0134
Date of REC Opinion
30 May 2022
REC opinion
Favourable Opinion