Hereditary Angioedema Kininogen Assay

Study Overview
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Brief Summary
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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
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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.

Official Title
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Hereditary Angioedema Kininogen Assay: A Multicenter, Epidemiological, Observational Study.

Conditions
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Hereditary Angioedema

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with Hereditary Angioedema<br>Participants older than 18 years that are clinically diagnosed with Hereditary Angioedema type 1/2 and experienced ≥4 HAE attacks within last 12 month before the enrollment | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | Samples from HAE patients without lanadelumab treatment versus patients on lanadelumab treatment will be analyzed for cHMWK via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS). | 30 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | Samples from HAE patients without lanadelumab treatment versus patients on lanadelumab treatment collected before/during/after angioedema attacks will be analyzed for cHMWK via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS). | 30 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hereditary Angioedema, Cleaved high-molecular weight kininogen, Hereditary Angioedema Type I, Hereditary Angioedema Type II