Epidemiological Analysis for Hereditary Angioedema Disease (EHA)

April 22, 2022 updated by: CENTOGENE GmbH Rostock

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

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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

2318

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
      • Düsseldorf, Germany, 40225
        • Universitätsklinikum Düsseldorf, Klinik für Allgemein-, Viszeral- und Kinderchirurgie
      • Frankenberg, Germany, 35066
        • Dr. med. Engelhard | Dr. med. Wihl, Internistische Gemeinschaftspraxis
      • Greifswald, Germany, 17475
        • Universitätsmedizin Greifswald Körperschaft des öffentlichen Rechts
      • Kassel, Germany, 34125
        • Klinikum Kassel GmbH
      • Leipzig, Germany, 04103
        • Universitatsklinikum Leipzig AOR
      • Minden, Germany, 32429
        • Johannes Wesling Klinikum Minden, Universitätsklinik der Ruhr Universität Bochum
      • Rostock, Germany, 18057
        • Kinder- und Jugendklinik, Universitätsmedizin Rostock
    • Sachsen
      • Neustadt, Sachsen, Germany, 01844
        • Praxis und Tagesklinik Prof. Dr. med. Jens Papke
  • Italy
      • Napoli, Italy, 80131
        • Azienda Ospedaliera Antonio Cardarelli
  • Japan
      • Hiroshima, Japan, 7348551
        • Hiroshima University Graduate School of Biomedical Sciences
  • Poland
      • Białystok, Poland, 15-322
        • Gastromed
      • Częstochowa, Poland, 42218
        • Centrum Medyczne Alfamedica Silesia North
      • Gdańsk, Poland, 80-244
        • Specialized Medical Offices MeaMedica
      • Warsaw, Poland, 00-631
        • Przychodnia Polskiej Fundacji Gastroenterologii
      • Warsaw, Poland, 00-728
        • WIP Warsaw IBD Point
      • Warszawa, Poland, 1044
        • Przychodnia Lekarska MediSpace
      • Wrocław, Poland, 50-556
        • Uniwersytecki Szpital Kliniczny
      • Włocławek, Poland, 87 - 800
        • Cdl "Barska"
  • Turkey
      • Adana, Turkey, 01330
        • Cukurova University Balcali Hospital
      • Istanbul, Turkey, 34093
        • BEZMİALEM VAKIF ÜNİVERSİTESİ
      • Izmir, Turkey, 35100
        • Ege University Faculty of Medicine
      • Izmir, Turkey, 35330
        • Dokuz Eylul University Research and Application Hospital
  • United Kingdom
      • Aberdeen, United Kingdom, AB252ZN
        • Aberdeen Royal Infirmary
      • Derby, United Kingdom, DE22 3NE
        • University Hospital of Derby and Burton NHS Foundation Trust
      • Edinburgh, United Kingdom, EH16 4SA
        • Royal Infirmary of Edinburgh
      • Glasgow, United Kingdom, G514TF
        • Queen Elizabeth University Hospital
      • Glasgow, United Kingdom, PA29PN
        • Royal Alexandra Hospital
      • Kilmarnock, United Kingdom, KA20BE
        • University Hospital Crosshouse
      • Leicester, United Kingdom, LE1 5WW
        • University Hospital Leicester (UHL)
      • London, United Kingdom, W12 0HS
        • Imperial College Healthcare NHS Trust
      • London, United Kingdom, E1 1BB
        • The Royal London Hospital
      • London, United Kingdom, SE1 7EH
        • St Thomas Hospital
      • London, United Kingdom, SW17 0RE
        • St George's University Hospital London
      • Manchester, United Kingdom, M13 9WL
        • Manchester Royal Infirmary
      • Milton Keynes, United Kingdom, MK6 5LD
        • Milton Keynes Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 60 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Participants with previous episodes of abdominal pain attacks of no obvious etiology

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
4 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2018

Primary Completion (Actual)

April 11, 2022

Study Completion (Actual)

April 11, 2022

Study Registration Dates

First Submitted

June 5, 2018

First Submitted That Met QC Criteria

June 14, 2018

First Posted (Actual)

June 15, 2018

Study Record Updates

Last Update Posted (Actual)

April 25, 2022

Last Update Submitted That Met QC Criteria

April 22, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • EHA 01-2018

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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