Identification and Characterization of Genetic Variants in Hereditary Angioedema
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
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 design
Treatments tested in this trial
- Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsSponsors and collaborators
Hospital Universitari Vall d'Hebron Research Institute
Lead sponsor
Hospital Universitario La Paz
Collaborator
Source ClinicalTrials.gov