Identification and Characterization of Genetic Variants in Hereditary Angioedema

Identification and Functional Characterization of Genetic Variants Associated With Specific Clinical Phenotypes in Hereditary Angioedema Due to C1 Inhibitor Deficiency: An Unbiased Approach

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05833620

Acronym

GENOMAEH_01

Enrollment

200

Registered

2023-04-27

Start date

2023-05-31

Completion date

2027-03-31

Last updated

2023-04-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Angioedema With C1 Esterase Inhibitor Deficiency

Brief summary

This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Inclusion criteria

* Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function \<50% in two determinations together with a family history (symptomatic patients' group) * Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function \<50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH * Signed informed consent.

Exclusion criteria

* No confirmed C1INH deficiency. * Inability to sign the informed consent. * Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and/or epinephrine)

Design outcomes

Primary

Measure	Time frame	Description
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH	Day 1	To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.

Countries

Spain

Contacts

Primary ContactRoger Colobran, PhD

roger.colobran@vallhebron.cat+34 93 489 30 00

Outcome results