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Epidemiological analysis for Hereditary Angioedema (EHA) disease

An international, multicenter, epidemiological observational study with the goal of investigating the prevalence of Hereditary Angioedema (HAE) in participants with repetitive episodes of abdominal pain of no obvious etiology. The aim is to enroll 5,000 individuals with unclear repetitive abdominal pain attacks from seven countries.

Summary

Overview

The Epidemiological analysis for Hereditary Angioedema (EHA) disease is an international observational study focusing on individuals who present acute unclear abdominal recurrent pain attacks of no obvious etiology. The goal is to study the prevalence of Hereditary AngioEdema (HAE) in participants with repetitive episodes of abdominal pain of no obvious etiology. Moreover, the study aims to establish a biomarker/s in the HAE positive population that might lead to earlier diagnosis possibilities in the future.


Study access on CentoPortal® for participating study doctors

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Study Rationale

HAE is an autosomal dominant inherited disease that often is under- or misdiagnosed. Recurrent abdominal pain attacks may be mistaken for conditions such as psychiatric disorders or appendicitis, and often results in unnecessary medical and surgical procedures. The disease is usually not diagnosed until late adolescence, and undiagnosed individuals have frequent abdominal pain episodes that impair the quality of life. The EHA study will help in providing a diagnosis for affected individuals, and thus update the prevalence of HAE. The knowledge obtained from participants’ samples will further help to develop new diagnostic possibilities.

Participant Benefits

Participants may receive a definitive diagnosis of HAE type 1/2. This step has also a direct impact for the majority of the families with HAE participants due to the dominant inheritance nature of the disease.

Information about the Study

Design: International, multicenter, epidemiological observational study

Study population: Individuals with repetitive episodes of abdominal pain 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 the HAE among the individuals with repetitive episodes of abdominal pain of no obvious etiology
  • Secondary: To establish (a) biomarker/s in HAE positive population

ClinicalTrials.gov

Geographic Scope

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

HAE Disease Facts

  • A hereditary disease characterized by bradykinin-mediated angioedema
  • An autosomal dominant disease caused primarily by mutations in SERPING1, coding for the complement plasma C1 inhibitor protein
  • Published prevalence varies from 1:10,000 to 1:50,000
  • 93% of HAE individuals suffer from recurrent abdominal pain due to gastrointestinal edemas, which might be the only disease manifestation
  • Individuals with gastrointestinal symptoms are rarely considered for HAE and face misdiagnosis for an average of 8 years

Study Design

Participants fulfilling the elegibility criteria may be enrolled in the Study. All participants will have a single research blood sample drawn (around 1ml). This will be applied to a Dried Blood Spot (DBS) filter CentoCard®, which will be sent to CENTOGENE and analyzed in CENTOGENE’s laboratory for HAE. The standard diagnosis procedure of HAE in our laboratory is based on Dry Blood Spot filter CentoCard® technology that simplifies both the sample collection and the logistics. The diagnostic workflow is a two-step approach: firstly, the complement proteins are quantified by tandem mass spectrometry and, secondly, the results are confirmed by genetic analysis. The biochemical results are thus genetically confirmed via Next-Generation Sequencing of HAE related genes and, when necessary, additionally by MLPA (Multiplex ligation-dependent probe amplification) to identify deletions or duplication.

CENTOGENE will contact the study doctor to inform them about the test results. Only participants testing positive for HAE will be informed by their doctor and negative results will not be reported to the participant.

Inclusion Criteria
Informed consent is provided
Individuals with repetitive abdominal pain attacks of no obvious etiology
Individuals aged between 2 and 60 years

Contact

Dr. Volha Skrahina, Project Lead
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Volha.Skrahina(at)centogene(dot)com

Dr. Toni Förster, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Toni.Foerster(at)centogene(dot)com

Marcello Grassi, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Marcello.Grassi(at)centogene(dot)com

Dr. Selen Zülbahar
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Selen.Zuelbahar(at)centogene(dot)com

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

Marta Maciejewska
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Marta.Maciejewska(at)centogene(dot)com


Study access on CentoPortal® for participating study doctors

CentoPortal®