Epidemiological Analysis for Hereditary Angioedema Disease (EHA)
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|ClinicalTrials.gov Identifier: NCT03558009|
Recruitment Status : Recruiting
First Posted : June 15, 2018
Last Update Posted : January 10, 2022
|Condition or disease|
|Abdominal Pain Functional Abdominal Pain|
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|
|Estimated Enrollment :||5000 participants|
|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|
Participants with abdominal pain attacks
Participants experiencing recurrent abdominal pain attacks without a clear etiolgy aged between 2-60 years
- 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.
- 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
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
|Contact: Selen Zülbahar, PhD||+49 (0)38180113341||Selen.Zuelbahar@centogene.com|
|Study Chair:||Peter Bauer, MD||CENTOGENE GmbH|