Epidemiological Analysis for Hereditary Angioedema Disease

Abdominal Pain Clinical Trial

— EHA  

Official title:

Epidemiological Analysis for Hereditary Angioedema Disease: An International, Multicenter, Epidemiological Protocol

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03558009
• Other study ID #: EHA 01-2018
• Status: Completed
• Start date: September 1, 2018
• Est. completion date: April 11, 2022

Study information

• Verified date: April 2022
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2318
• Est. completion date: April 11, 2022
• Est. primary completion date: April 11, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 60 Years

Eligibility

INCLUSION CRITERIA

• 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

EXCLUSION CRITERIA

• 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

Related Conditions & MeSH terms

• Abdominal Pain
• Angioedema
• Functional Abdominal Pain

Locations

Country	Name	City	State
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	Praxis und Tagesklinik Prof. Dr. med. Jens Papke	Neustadt	Sachsen
Germany	Kinder- und Jugendklinik, Universitätsmedizin Rostock	Rostock
Italy	Azienda Ospedaliera Antonio Cardarelli	Napoli
Japan	Hiroshima University Graduate School of Biomedical Sciences	Hiroshima
Poland	Gastromed	Bialystok
Poland	Centrum Medyczne Alfamedica Silesia North	Czestochowa
Poland	Specialized Medical Offices MeaMedica	Gdansk
Poland	Przychodnia Polskiej Fundacji Gastroenterologii	Warsaw
Poland	WIP Warsaw IBD Point	Warsaw
Poland	Przychodnia Lekarska MediSpace	Warszawa
Poland	Cdl "Barska"	Wloclawek
Poland	Uniwersytecki Szpital Kliniczny	Wroclaw
Turkey	Cukurova University Balcali Hospital	Adana
Turkey	Bezmialem Vakif Üniversitesi	Istanbul
Turkey	Dokuz Eylül University Research and Application Hospital	Izmir
Turkey	Ege University Faculty of Medicine	Izmir
United Kingdom	Aberdeen Royal Infirmary	Aberdeen
United Kingdom	University Hospital of Derby and Burton NHS Foundation Trust	Derby
United Kingdom	Royal Infirmary of Edinburgh	Edinburgh
United Kingdom	Queen Elizabeth University Hospital	Glasgow
United Kingdom	Royal Alexandra Hospital	Glasgow
United Kingdom	University Hospital Crosshouse	Kilmarnock
United Kingdom	University Hospital Leicester (UHL)	Leicester
United Kingdom	Imperial College Healthcare NHS Trust	London
United Kingdom	St George's University Hospital London	London
United Kingdom	St Thomas Hospital	London
United Kingdom	The Royal London Hospital	London
United Kingdom	Manchester Royal Infirmary	Manchester
United Kingdom	Milton Keynes Hospital	Milton Keynes

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Germany,  Italy,  Japan,  Poland,  Turkey,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Epidemiological analysis of prevalence of the HAE in participants with previous episodes of abdominal pain of no obvious etiology.	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.	4 years
Secondary	Establishment of a biomarker in HAE-positive cohort	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.	4 years

External Links

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