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Epidemiological analysis for Hereditary Angioedema disease (EHA Study)

EHA is an international, multicenter, epidemiological observational study investigating the prevalence of Hereditary Angioedema (HAE) disease among participants with recurrent episodes of abdominal pain of no obvious etiology.

Summary

Overview

The Epidemiological analysis for Hereditary Angioedema (EHA) is an international observational study. The main goal of the study is to investigate the prevalence of Hereditary Angioedema (HAE) among participants with recurrent episodes of abdominal pain of no obvious etiology. Moreover, the study aims to establish HAE biomarker(s) that may potentially facilitate earlier diagnosis and treatment personalization in the future.


Study access to CentoPortal® for participating physicians

CentoPortal®

Study Rationale

HAE is an autosomal dominant inherited disorder that is often under- or misdiagnosed. Recurrent abdominal pain attacks, which are sometimes the only manifestation of the disease, may be mistaken for other conditions, such as psychiatric disorders or appendicitis – resulting in unnecessary medical and surgical procedures.

The disease is usually not diagnosed until late adolescence, and undiagnosed individuals may have frequent abdominal pain episodes that may impair their quality of life. The EHA study will help in providing an early diagnosis of such individuals, and thus update the prevalence of HAE. Moreover, the biochemical analyses carried out on HAE-positive samples will further support the development of new diagnostic tools for HAE.

Participant Benefits

Participants may receive a definite diagnosis of HAE type 1/2. This may also have a direct impact on the family of the diagnosed subjects due to the dominant inheritance nature of the disease.

Information About the Study

Design: International, multicenter, epidemiological, observational study

Study population: Individuals with previous episodes of abdominal pain attacks of no obvious etiology

Number of participants: 5,000 participants

First participant in: September 2018

Last participant in: June 2022

Inclusion period: 48 months

Objectives:

Primary – To investigate the prevalence of HAE in individuals with previous episodes of abdominal pain of no obvious etiology
Secondary – To establish a biomarker in the HAE-positive cohort


Find out how you can participate: ClinicalTrials.gov

Geographic Scope

The EHA study is being conducted in Mexico, Germany, Italy, Turkey, Poland, and Japan.

Overview of countries that are participating in the EHA study. The dots mark the headquarter of CENTOGENE AG (Rostock, Germany). (© OpenStreetMap contributors)

HAE Disease Facts

    • A hereditary disorder characterized by bradykinin-mediated angioedema
    • An autosomal dominant disease caused primarily by mutations in SERPING1 gene, coding for the plasma C1 esterase inhibitor (C1-INH) protein
    • Published prevalence varies from 1:10,000 to 1:50,000
    • 93% of HAE patients suffer from recurrent abdominal pain due to gastrointestinal edemas, which might be the only manifestation of disease
    • Individuals with gastrointestinal symptoms are rarely suspected of having HAE and may face misdiagnosis for an average of eight years

    Study Design

    Participants fulfilling the eligibility criteria may be enrolled in the Study. All participants will have a single blood sample drawn (around 1ml). This will be applied to a CentoCard®, which will be sent to CENTOGENE and analyzed at CENTOGENE’s specialized laboratories for HAE. The diagnostic workflow is a two-step approach: In the first step, the complement proteins are quantified by tandem mass spectrometry, and in the second step, the results are confirmed by genetic analyses. The biochemical results are thus genetically confirmed via Next Generation Sequencing of the SERPING1 gene, and when necessary, Multiplex Ligation-dependent Probe Amplification (MLPA) is performed to identify large deletions or duplications.

    CENTOGENE will contact the study doctor to inform them about the test results. Only participants diagnosed with HAE will be informed by their study doctor. If the subject is not contacted by the study site within one month, the results can be considered negative.

    Inclusion Criteria
    Informed consent is obtained from the participant or parent/legal guardian
    Participant has experienced previous episodes of abdominal pain of no obvious etiology
    Participants aged between 2 to 60 years old

    Contact

    Dr. Volha Skrahina, Vice Director Clinical Studies
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Volha.Skrahina(at)centogene(dot)com

    Dr. Selen Zülbahar, Clinical Project Manager & Team Leader (EHA Project Lead)
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Selen.Zuelbahar(at)centogene(dot)com

    Dr. Toni Förster, Clinical Project Manager & Team Leader
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Toni.Foerster(at)centogene(dot)com

    Xenia Bogdanovic, Clinical Study Researcher
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Xenia.Bogdanovic(at)centogene(dot)com

    Dr. Maria Olmedillas del Moral, Clinical Study Researcher
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Maria.Olmedillas(at)centogene(dot)com

    Dr. Anika Knaust, Clinical Study Researcher
    CENTOGENE AG
    Am Strande 7
    18055 Rostock
    Germany
    Email: Anika.Knaust(at)centogene(dot)com

    Study access to CentoPortal® for participating physicians

    CentoPortal®