Identification and Characterization of Genetic Variants in Hereditary Angioedema (GENOMAEH_01)

April 17, 2023 updated by: Hospital Universitari Vall d'Hebron Research Institute

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

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.

Study Overview

Status

Not yet recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Spain
      • Barcelona, Spain, 08035
        • Hospital Universitari Vall d'Hebron
        • Contact:
        • Sub-Investigator:
          • Mar Guilarte, MD
      • Madrid, Spain, 28041
        • Hospital Universitario La Paz
        • Contact:
          • Alberto López Lera, PhD
        • Sub-Investigator:
          • Teresa Caballero, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Adult patients 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 (≥ 18 years old), which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis and b) asymptomatic patients (≥ 22 years old), which will be those with a C1INH deficiency and who have not developed symptoms of HAE.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Universitari Vall d'Hebron Research Institute

Collaborators

Hospital Universitario La Paz

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

May 1, 2023

Primary Completion (Anticipated)

March 31, 2026

Study Completion (Anticipated)

March 31, 2027

Study Registration Dates

First Submitted

March 17, 2023

First Submitted That Met QC Criteria

April 17, 2023

First Posted (Actual)

April 27, 2023

Study Record Updates

Last Update Posted (Actual)

April 27, 2023

Last Update Submitted That Met QC Criteria

April 17, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GENOMAEH_01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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