The deep phenotype of monogenic SLC12A3 disease
Research type
Research Study
Full title
Advanced phenotyping to uncover the role of thiazide-sensitive sodium chloride cotransporter (SLC12A3) activation in the development of human hypertension.
IRAS ID
270885
Contact name
Stephen B Walsh
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
Z6364106/2019/10/64, UCL data protection number
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Hypertension is the leading risk factor for premature death worldwide. The number of people with hypertension is increasing yet we know little about the cause of hypertension and how different people develop high blood pressure.
Monogenic hypertensive syndromes may give new insight into essential hypertension as the syndromes are caused by a default in a single gene. Examples of Monogenic hypertensive syndromes include Gitleman syndome (GS) which causes low blood pressure and Familial Hyperkalaemic Hypertension (FHHt) which causes high blood pressure. In both conditions, the Renal Thiazide -Sensitive sodium/chloride Cotransporter, SLC12A3 is of great interest as genetic overactivation of this protein causes FHHt (high blood pressure) while underactivation causes the mirror image Gitelman Syndrome (low blood pressure).
The aim of this study is to discover the physiological basis for disordered blood pressure in patients with genetic SLC12A3 disease causing either High (FHHt) or Low (GS) blood pressure. To do this we will obtain blood, urine and buccal mucosa samples from all participants and a series of cardiac images from a subset of participants. In total, we will aim to recruit 70 participants including 10 patients with GS, 10 patients with FHHt and 50 healthy volunteers.
All participants will be recruited from the participating site. A subset of participants (n=15) will complete further cardiac imaging at a partner institution. There are only two study visits for involved; we anticipate participants will be involved for up to 3 months.REC name
West of Scotland REC 5
REC reference
20/WS/0130
Date of REC Opinion
24 Nov 2020
REC opinion
Further Information Favourable Opinion