Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Epidemiological Analysis for Hereditary Angioedema Disease (EHA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03558009
Recruitment Status : Recruiting
First Posted : June 15, 2018
Last Update Posted : August 19, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG 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.

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.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 5000 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
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : July 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Abdominal Pain

Group/Cohort
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
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
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

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


Contacts
Layout table for location contacts
Contact: Volha Skrahina, PhD +49 (0)38180113594 Volha.Skrahina@centogene.com
Contact: Selen Zülbahar, PhD +49 (0)38180113590 Selen.Zuelbahar@centogene.com

Locations
Show Show 30 study locations
Sponsors and Collaborators
Centogene AG Rostock
Investigators
Layout table for investigator information
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock
Additional Information:
Layout table for additonal information
Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT03558009    
Other Study ID Numbers: EHA 01-2018
First Posted: June 15, 2018    Key Record Dates
Last Update Posted: August 19, 2020
Last Verified: August 2020

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Hereditary Angioedema
DBS-based biochemical and genetic assay for HAE type I/II
Biomarker
Additional relevant MeSH terms:
Layout table for MeSH terms
Angioedema
Angioedemas, Hereditary
Abdominal Pain
Pain
Neurologic Manifestations
Signs and Symptoms, Digestive
Vascular Diseases
Cardiovascular Diseases
Urticaria
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases
Genetic Diseases, Inborn