Clinical trial NCT04091113: Hereditary Angioedema Kininogen Assay
Official title: Hereditary Angioedema Kininogen Assay: A Multicenter, Epidemiological, Observational Study.
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Hereditary Angioedema
Keywords: Hereditary Angioedema
Cleaved high-molecular weight kininogen
Hereditary Angioedema Type I
Hereditary Angioedema Type II
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2019-09-16
Enrollment: 59
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Hereditary Angioedema type 1/2 patients

Brief summary: A multicenter epidemiological observational study aiming to explore the cleaved high-molecular weight kininogen (cHMWK) including identification and characterization of other metabolite/biomarkers in HAE type 1/2 patients

Detailed description: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent tissue angioedema episodes, mainly caused by mutations in the SERPING1 gene that encodes C1 inhibitor (C1-INH), a protease involved in limiting bradykinin production. Low levels of C1-INH (HAE type 1) or dysfunctional C1-INH (HAE type 2) lead to bradykinin accumulation, resulting in capillary leakage and tissue swelling.

High Molecular Weight Kininogen (HMWK) proteolysis, by active plasma kallikrein, results in bradykinin and cHMWK generation.

The goal of this study is to explore the cHMWK concentrations in HAE type 1/2 patients, as a biomarker for this disease.

The HAEKA study is performed in collaboration with Shire. Shire is a wholly owned subsidiary of Takeda Pharmaceutical Company Limited.

Eligibility criteria: Inclusion Criteria:

* Informed consent is obtained from the participant
* The patient with diagnosis of Hereditary Angioedema (HAE) type 1/2 based on international guidelines
* The patient experienced ≥4 HAE attacks within last 12 month before enrolment in the study
* The participant is older than 18 years old

Exclusion Criteria:

* Inability to provide informed consent
* The patient is not diagnosed with Hereditary Angioedema (HAE) type 1/2
* The patient experienced ˂ 4 HAE attacks within last 12 month before enrolment in the study
* The participant is younger than 18 years old

Primary outcomes:
measure: Exploring the cleaved high-molecular weight kininogen (cHMWK) as a biomarker in HAE type 1/2 patients, as well as to study the differences between HAE type 1/2 patients without lanadelumab treatment versus patients on lanadelumab treatment.
timeFrame: 30 months
Secondary outcomes:
measure: Studying cHMWK as a biomarker in HAE type 1/2 patients with edema attack, as well as to study the differences between HAE type 1/2 patients without lanadelumab treatment versus patients on lanadelumab treatment.
timeFrame: 30 months
Other outcomes:
measure: Studying other metabolites as potential biomakers in HAE type 1/2 patients, as well as to study the differences between HAE type 1/2 patients without lanadelumab treatment versus patients on lanadelumab treatment.
timeFrame: 30 months
Locations:
city: Berlin
country: Germany
facility: Charité - Universitätsmedizin Berlin
city: Düsseldorf
country: Germany
facility: Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Düsseldorf,
city: Frankfurt
country: Germany
facility: Klinikum der Johann-Wolfgang-Goethe-Universität
city: Hannover
country: Germany
facility: Medizinische Hochschule Hannover
city: Leipzig
country: Germany
facility: Universitäts-Hautklinik Leipzig
city: Mörfelden-Walldorf
country: Germany
facility: Hämophilie-Zentrum Rhein Main GmbH
city: Ulm
country: Germany
facility: Universitätsklinikum Ulm
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, MD
role: STUDY_CHAIR
References: