Epidemiological Analysis for Hereditary Angioedema Disease

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03558009

Acronym

EHA

Enrollment

2318

Registered

2018-06-15

Start date

2018-09-01

Completion date

2022-04-11

Last updated

2022-04-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Abdominal Pain, Functional Abdominal Pain

Keywords

Hereditary Angioedema, DBS-based biochemical and genetic assay for HAE type I/II, Biomarker

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to 60 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Epidemiological analysis of prevalence of the HAE in participants with previous episodes of abdominal pain of no obvious etiology.	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

Measure	Time frame	Description
Establishment of a biomarker in HAE-positive cohort	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.

Countries

Germany, Italy, Japan, Poland, Turkey (Türkiye), United Kingdom

Outcome results