Identification and Characterization of Genetic Variants in Hereditary Angioedema

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-05-31

Study Completion Date

2027-03-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Hereditary Angioedema With C1 Esterase Inhibitor Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Symptomatic patients

Adult patients (≥ 18 years old) 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, which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis

No interventions assigned to this group

Asymptomatic patients

Asymptomatic patients, which will be those with a C1INH deficiency and who have not developed symptoms of HAE. Asymptomatic patients must be at least 22 years old and meet the same criteria than those symptomatic, except for the presence of symptoms consistent with HAE-C1INH

No interventions assigned to this group

Eligibility Criteria

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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)

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No