Identification and Characterization of Genetic Variants in Hereditary Angioedema
Not yet recruiting
- Conditions
- Hereditary Angioedema With C1 Esterase Inhibitor Deficiency
- Registration Number
- NCT05833620
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 200
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)
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Hospital Universitari Vall d'Hebron
🇪🇸Barcelona, Spain
Hospital Universitario La Paz
🇪🇸Madrid, Spain