Phenotyping and Genotyping in HAE-nC1
Research type
Research Study
Full title
Phenotyping and Genotyping in HAE-nC1
IRAS ID
365378
Contact name
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 will seek to establish the genetic basis of HAE-nC1 in a family. This means we are trying to understand how changes in DNA 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
East of England - Cambridge South Research Ethics Committee
REC reference
26/EE/0020
Date of REC Opinion
29 Jan 2026
REC opinion
Unfavourable Opinion