Identification and Characterization of Genetic Variants in Hereditary Angioedema

ConditionHereditary Angioedema With C1 Esterase Inhibitor Deficiency

Trial statusNot yet recruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age18+

SponsorHospital Universitari Vall d'Hebron Research Institute

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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)

Trial population

Adult patients with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic (≥ 18 years old), which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis and b) asymptomatic patients (≥ 22 years old), which will be those with a C1INH deficiency and who have not developed symptoms of HAE.

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

200 Participants

are grouped into 2 trial groups

Group A: Symptomatic patients

Group B: Asymptomatic patients

Trial outcomes

Primary outcomes

Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH

To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.

Time frame

Day 1

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Hospital Universitari Vall d'Hebron Research Institute

Lead sponsor

Hospital Universitario La Paz

Collaborator

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: