Phenotyping and Genotyping in HAE-nC1
Research type
Research Study
Full title
Phenotyping and Genotyping in HAE-nC1
IRAS ID
369920
Contact name
Nishantha Padmalal Gurugama
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
In this study we are looking to better understand which gene mutations cause HAE-nC1. We will do this by undertaking gene testing in a cohort of patients with features of bradykinin-mediated angioedema. This means we are trying to understand how changes in DNA (genes) result in angioedema that can be passed down from parents to children, in a group of people with normal levels and functions of C1-esterase inhibitor protein.
We will do this by collecting clinical information, assessing biomarkers (C4, C3, C1 level and function, bradykinin levels and their breakdown products) and genetic screening.
REC name
West of Scotland REC 5
REC reference
26/WS/0046
Date of REC Opinion
28 May 2026
REC opinion
Further Information Favourable Opinion