Is there a genotype-phenotype correlation in SDHB mutation carriers?
Research type
Research Study
Full title
Is there a genotype-phenotype correlation in SDHB that can guide surveillance screening?
IRAS ID
269678
Contact name
Scott Alexander Akker
Contact email
Sponsor organisation
Barts Health NHS Trust
Duration of Study in the UK
3 years, 0 months, 4 days
Research summary
Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare tumours arising from the autonomic nervous system. They cause harm by producing excess hormones e.g. noradrenaline (leading to high blood pressure and heart failure) but may also become cancerous and spread. Once spread has occurred, limited treatment is available. Certain genes are known to predispose to cancerous PCC/PGL formation. Mutations in a particular gene, coding the subunit B of succinate dehydrogenase (SDHB) lead to a high rate of cancer development when a tumour develops. However radiological screening programmes for PCC/PGL detection are currently poorly defined.
This research addresses the question of how to prevent the spread of new tumours by defining who should have the most frequent scans. By gathering and meticulously analysing large numbers of scans from patients affected by a change in their SDHB gene and correlating them with the precise gene change, we will improve the screening of people predisposed to developing disease, so that tumours can be removed before they have spread. We hope that anybody affected by a SDHB gene change in the UK who wishes to take part will be able to do so. Part of the study is funded by AMEND, the patient support group for this gene change.
REC name
London - Dulwich Research Ethics Committee
REC reference
20/LO/0423
Date of REC Opinion
3 Sep 2020
REC opinion
Further Information Favourable Opinion