Epidemiological Analysis for Hereditary Angioedema Disease

Completed

• Conditions: Functional Abdominal Pain; Abdominal Pain

• Registration Number: NCT03558009
• Lead Sponsor: CENTOGENE GmbH Rostock

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.

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.

Study Timeline

• Study First Submitted: 2018-06-05
• Study First Submitted QC: 2018-06-14
• Study First Posted: 2018-06-15
• Study Start: 2018-09-01
• Status Verified: 2022-04
• Primary Completion: 2022-04-11
• Study Completion: 2022-04-11
• Last Update Submitted: 2022-04-22
• Last Update Posted: 2022-04-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2318

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Epidemiological analysis of prevalence of the HAE in participants with previous episodes of abdominal pain of no obvious etiology.	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

Name	Time	Method
Establishment of a biomarker in HAE-positive cohort	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.

Trial Locations

Locations (35)

Praxis und Tagesklinik Prof. Dr. med. Jens Papke; 🇩🇪 Neustadt, Sachsen, Germany

Universitätsklinikum Düsseldorf, Klinik für Allgemein-, Viszeral- und Kinderchirurgie; 🇩🇪 Düsseldorf, Germany

Dr. med. Engelhard | Dr. med. Wihl, Internistische Gemeinschaftspraxis; 🇩🇪 Frankenberg, Germany

Universitätsmedizin Greifswald Körperschaft des öffentlichen Rechts; 🇩🇪 Greifswald, Germany

Klinikum Kassel GmbH; 🇩🇪 Kassel, Germany

Universitätsklinikum Leipzig AöR; 🇩🇪 Leipzig, Germany

Johannes Wesling Klinikum Minden, Universitätsklinik der Ruhr Universität Bochum; 🇩🇪 Minden, Germany

Kinder- und Jugendklinik, Universitätsmedizin Rostock; 🇩🇪 Rostock, Germany

Azienda Ospedaliera Antonio Cardarelli; 🇮🇹 Napoli, Italy

Hiroshima University Graduate School of Biomedical Sciences; 🇯🇵 Hiroshima, Japan

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