Epidemiological Analysis for Hereditary Angioedema Disease (EHA)
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| ClinicalTrials.gov Identifier: NCT03558009 |
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Recruitment Status :
Completed
First Posted : June 15, 2018
Last Update Posted : April 25, 2022
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| Condition or disease |
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| 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 |
| Actual Enrollment : | 2318 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 |
| Actual Primary Completion Date : | April 11, 2022 |
| Actual Study Completion Date : | April 11, 2022 |
| Group/Cohort |
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Participants with abdominal pain attacks
Participants experiencing recurrent abdominal pain attacks without a clear etiolgy aged between 2-60 years
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- 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
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| Ages Eligible for Study: | 2 Years to 60 Years (Child, Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
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
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
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| Study Chair: | Peter Bauer, MD | CENTOGENE GmbH |
| Responsible Party: | CENTOGENE GmbH Rostock |
| ClinicalTrials.gov Identifier: | NCT03558009 |
| Other Study ID Numbers: |
EHA 01-2018 |
| First Posted: | June 15, 2018 Key Record Dates |
| Last Update Posted: | April 25, 2022 |
| Last Verified: | April 2022 |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Hereditary Angioedema DBS-based biochemical and genetic assay for HAE type I/II Biomarker |
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Angioedema Angioedemas, Hereditary Hereditary Complement Deficiency Diseases 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 Primary Immunodeficiency Diseases Genetic Diseases, Inborn Immunologic Deficiency Syndromes |