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NCT Number: NCT05833620

Identification and Characterization of Genetic Variants in Hereditary Angioedema

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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Key information

Conditions

Hereditary Angioedema With C1 Esterase Inhibitor Deficiency

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Universitari Vall d'Hebron, Barcelona, Spain

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Who can participate

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

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

    Time frame: Day 1

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

Study contacts

Contact information is provided by the study sponsor or research team.

Roger Colobran, PhD

CONTACT

[email protected]

+34 93 489 30 00 ext. 6983

Sponsors and collaborators

Lead sponsor

Hospital Universitari Vall d'Hebron Research Institute

Other

Collaborators

  • Hospital Universitario La Paz

Registry information

Official study title

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

Acronym: GENOMAEH_01

Important dates

Study start
2023
Primary completion
2026
Study completion
2027
First posted
Apr 27, 2023
Registry last updated
Apr 27, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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