Clinical trial NCT03558009: Epidemiological Analysis for Hereditary Angioedema Disease
Official title: Epidemiological Analysis for Hereditary Angioedema Disease: An International, Multicenter, Epidemiological Protocol
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Abdominal Pain
Functional Abdominal Pain
Keywords: Hereditary Angioedema
DBS-based biochemical and genetic assay for HAE type I/II
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2018-06-15
Enrollment: 2318
Sex: ALL
Minimum age (years): 2
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with previous episodes of abdominal pain attacks of no obvious etiology

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.

Eligibility criteria: 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

Primary outcomes:
measure: Epidemiological analysis of prevalence of the HAE in participants with previous episodes of abdominal pain of no obvious etiology.
timeFrame: 4 years
Secondary outcomes:
measure: Establishment of a biomarker in HAE-positive cohort
timeFrame: 4 years
Other outcomes:
Locations:
city: Neustadt
country: Germany
facility: Praxis und Tagesklinik Prof. Dr. med. Jens Papke
state: Sachsen
city: Düsseldorf
country: Germany
facility: Universitätsklinikum Düsseldorf, Klinik für Allgemein-, Viszeral- und Kinderchirurgie
city: Frankenberg
country: Germany
facility: Dr. med. Engelhard | Dr. med. Wihl, Internistische Gemeinschaftspraxis
city: Greifswald
country: Germany
facility: Universitätsmedizin Greifswald Körperschaft des öffentlichen Rechts
city: Kassel
country: Germany
facility: Klinikum Kassel GmbH
city: Leipzig
country: Germany
facility: Universitätsklinikum Leipzig AöR
city: Minden
country: Germany
facility: Johannes Wesling Klinikum Minden, Universitätsklinik der Ruhr Universität Bochum
city: Rostock
country: Germany
facility: Kinder- und Jugendklinik, Universitätsmedizin Rostock
city: Napoli
country: Italy
facility: Azienda Ospedaliera Antonio Cardarelli
city: Hiroshima
country: Japan
facility: Hiroshima University Graduate School of Biomedical Sciences
city: Białystok
country: Poland
facility: Gastromed
city: Częstochowa
country: Poland
facility: Centrum Medyczne Alfamedica Silesia North
city: Gdańsk
country: Poland
facility: Specialized Medical Offices MeaMedica
city: Warsaw
country: Poland
facility: Przychodnia Polskiej Fundacji Gastroenterologii
city: Warsaw
country: Poland
facility: WIP Warsaw IBD Point
city: Warszawa
country: Poland
facility: Przychodnia Lekarska MediSpace
city: Wrocław
country: Poland
facility: Uniwersytecki Szpital Kliniczny
city: Włocławek
country: Poland
facility: Cdl "Barska"
city: Adana
country: Turkey
facility: Cukurova University Balcali Hospital
city: Istanbul
country: Turkey
facility: Bezmialem Vakif Üniversitesi
city: Izmir
country: Turkey
facility: Ege University Faculty of Medicine
city: Izmir
country: Turkey
facility: Dokuz Eylül University Research and Application Hospital
city: Aberdeen
country: United Kingdom
facility: Aberdeen Royal Infirmary
city: Derby
country: United Kingdom
facility: University Hospital of Derby and Burton NHS Foundation Trust
city: Edinburgh
country: United Kingdom
facility: Royal Infirmary of Edinburgh
city: Glasgow
country: United Kingdom
facility: Queen Elizabeth University Hospital
city: Glasgow
country: United Kingdom
facility: Royal Alexandra Hospital
city: Kilmarnock
country: United Kingdom
facility: University Hospital Crosshouse
city: Leicester
country: United Kingdom
facility: University Hospital Leicester (UHL)
city: London
country: United Kingdom
facility: The Royal London Hospital
city: London
country: United Kingdom
facility: St Thomas Hospital
city: London
country: United Kingdom
facility: St George's University Hospital London
city: London
country: United Kingdom
facility: Imperial College Healthcare NHS Trust
city: Manchester
country: United Kingdom
facility: Manchester Royal Infirmary
city: Milton Keynes
country: United Kingdom
facility: Milton Keynes Hospital
Study officials:
affiliation: CENTOGENE GmbH
name: Peter Bauer, MD
role: STUDY_CHAIR
References: