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Epidemiological Analysis for Hereditary Angioedema Disease (EHA)

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ClinicalTrials.gov Identifier: NCT03558009
Recruitment Status : Completed
First Posted : June 15, 2018
Last Update Posted : April 25, 2022
Information provided by (Responsible Party):

Brief Summary:
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.

Condition or disease
Abdominal Pain Functional Abdominal Pain

Detailed Description:

Hereditary Angioedema (HAE) is a rare autosomal dominant disorder characterized most commonly by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein (encoded by SERPING1 gene). The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, and extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening.

Gastrointestinal involvement occurs in 93% of patients with HAE and may be the only manifestation of the disease. However, individuals with gastrointestinal symptoms are rarely considered for HAE and the disease can be misdiagnosed for several years.

EHA study focuses on the gastrointestinal complications of HAE as a potential area of misdiagnosis leading to surgical morbidity. Aim of the study is to investigate the prevalence of HAE among participants experiencing recurrent abdominal pain attacks with no clear etiology. The HAE-positive samples in the study will be further analyzed biochemically to identify disease-specific biomarker that may support the development of new diagnostic tools for HAE disease.

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Study Type : Observational
Actual Enrollment : 2318 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Epidemiological Analysis for Hereditary Angioedema Disease: An International, Multicenter, Epidemiological Protocol
Actual Study Start Date : September 1, 2018
Actual Primary Completion Date : April 11, 2022
Actual Study Completion Date : April 11, 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Abdominal Pain

Participants with abdominal pain attacks
Participants experiencing recurrent abdominal pain attacks without a clear etiolgy aged between 2-60 years

Primary Outcome Measures :
  1. Epidemiological analysis of prevalence of the HAE in participants with previous episodes of abdominal pain of no obvious etiology. [ Time Frame: 4 years ]
    Dry Blood Spot (DBS)-based biochemical measurements of C4 complement and the protease C1 inhibitor levels will be analyzed via liquid chromatography multiple reaction. The pathological biochemical results will be genetically validated via combination of the Next-Generation Sequencing (the mutation will be confirmed by Sanger sequencing) and Multiplex ligation-dependent probe amplification of SERPING1.

Secondary Outcome Measures :
  1. Establishment of a biomarker in HAE-positive cohort [ Time Frame: 4 years ]
    HAE-positive samples will be analyzed for the identification of potential biomarkers (based on MS/MS-Tandem spectroscopy) and compared with the merged control samples in order establish a HAE specific biomarker.

Biospecimen Retention:   Samples With DNA
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Participants with previous episodes of abdominal pain attacks of no obvious etiology


  • Informed consent will be obtained from the participant or the parent or legal guardian
  • Participants with previous episodes of abdominal pain of no obvious etiology
  • Participants aged between 2 to 60 years old


  • Previous diagnosis of HAE
  • Inability to provide informed consent
  • The etiology of abdominal pain attacks is determined
  • Participants that are younger than 2 years old or older than 60 years old
  • Previous enrolled in the study

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03558009

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Sponsors and Collaborators
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Study Chair: Peter Bauer, MD CENTOGENE GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock
ClinicalTrials.gov Identifier: NCT03558009    
Other Study ID Numbers: EHA 01-2018
First Posted: June 15, 2018    Key Record Dates
Last Update Posted: April 25, 2022
Last Verified: April 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Hereditary Angioedema
DBS-based biochemical and genetic assay for HAE type I/II
Additional relevant MeSH terms:
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Angioedemas, Hereditary
Abdominal Pain
Neurologic Manifestations
Signs and Symptoms, Digestive
Vascular Diseases
Cardiovascular Diseases
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Immune System Diseases
Hereditary Complement Deficiency Diseases
Primary Immunodeficiency Diseases
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes