Identification and Characterization of Genetic Variants in Hereditary Angioedema

Hereditary Angioedema With C1 Esterase Inhibitor Deficiency Clinical Trial

— GENOMAEH_01  

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05833620
• Other study ID #: GENOMAEH_01
• Status: Not yet recruiting
• Start date: May 2023
• Est. completion date: March 31, 2027

Study information

• Verified date: April 2023
• Source: Hospital Universitari Vall d'Hebron Research Institute
• Contact: Roger Colobran, PhD
• Phone: +34 93 489 30 00
• Email: roger.colobran[@]vallhebron.cat
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 200
• Est. completion date: March 31, 2027
• Est. primary completion date: March 31, 2026
• Gender: All
• Age group: 18 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Angioedema
• Hereditary Angioedema With C1 Esterase Inhibitor Deficiency

Locations

Country	Name	City	State
Spain	Hospital Universitari Vall d'Hebron	Barcelona
Spain	Hospital Universitario La Paz	Madrid

Sponsors (2)

Lead Sponsor	Collaborator
Hospital Universitari Vall d'Hebron Research Institute	Hospital Universitario La Paz

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	Day 1