Angioedema Biomarker Research Study

Urticaria Clinical Trial

Official title:

Angioedema Biomarker Research Study

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06210698
• Other study ID #: Virant-A001
• Status: Not yet recruiting
• Start date: January 15, 2024
• Est. completion date: February 1, 2026

Study information

• Verified date: January 2024
• Source: Foundation For Rare Disease Research
• Contact: Henry Li, MD, PhD
• Phone: 877-888-2973
• Email: henryli[@]allergyasthma.us
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This clinical trial aims to evaluate and compare novel and commercially available diagnostic assays through blood tests for the differential diagnosis and comprehensive assessment of patients experiencing recurrent angioedema attacks, including both urticarial and non-urticarial angioedema. The primary objective is to assess the efficiency of novel diagnostic assays, both individually and in combination, in comparison to currently available commercial tests. The ultimate goal is to establish the feasibility of developing an affordable and accurate laboratory test capable of diagnosing the diverse etiological manifestations of angioedema.

Description:

Purpose: The purpose of this prospective non-interventional non-randomized diagnostic study is to first identify patients with recurrent angioedema attacks, then collect their blood samples (venipuncture) and ultimately send the samples to specialized laboratories to perform multiple diagnostic assays, novel and traditional, that can distinguish the various forms of angioedema (urticaria and non-urticarial symptoms and signs), and healthy subjects.

Methods and Materials: Blood specimen collection from a total of 300 patients with recurrent angioedema attacks, and 300 healthy volunteers without a history of angioedema attacks. Laboratory testing will include assays on multiple platforms. Complement testing via immunoassay and biochemistry techniques. Flow Cytometry using multiple markers. Mass Spectrometry that includes bradykinin metabolite and histamine detection. Molecular Genetics include Sanger sequencing, Next Generation Sequencing (NGS), and digital PCR.

Patient population: Study participants to be screened who have a history of recurrent angioedema incidents as well as a population of healthy subjects. A medical history will be documented after obtaining informed patient consent to enter into the clinical trial. Each enrolled participant will have blood collected as whole blood, plasma and serum via venipuncture.

Eligibility criteria (inclusion) for sample collection (angioedema subject):

• Understand and sign the informed consent form before starting any study procedure.

• Adult or Child: aged 12 years of age or older (consent must be signed by a single parent or legal guardian).

• Angioedema symptoms and signs by medical history, or previous laboratory diagnostic testing, or genetically proven cases (e.g. SERPING1 or other mutation). Patients can be on active medication for the treatment and prophylaxis of angioedema. Angioedema cases must be verified by a clinician from IAA.

• Able to perform and endure safely the collection of peripheral blood samples (venipuncture), or optionally agree to have additional testing via a skin punch biopsy.

Eligibility criteria (inclusion) for sample collection (for healthy participant/subject):

• Understand and sign the informed consent form before starting any study procedure.

• Adult or Child: aged 12 years of age or older (consent must be signed by a single parent or legal guardian).

• No history of any angioedema symptoms and signs, previous laboratory diagnostic testing, or genetically proven cases.

• Able to perform and endure safely the collection of peripheral blood samples (venipuncture), or optionally agree to have additional testing via a skin punch biopsy.

• Not on ACE inhibitors and if on blood pressure medication, to indicate the drug(s).

Exclusion Criteria (for all participants):

• Minor: 11 years of age or younger.

• Cannot read or understand the informed consent form and instructions.

• Unable to perform the peripheral blood sample collection.

• Taking medications contraindicated for testing.

• History of excessive bleeding after phlebotomy, e.g. Hemophilia.

• Contraindication due to other health-related issues.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 600
• Est. completion date: February 1, 2026
• Est. primary completion date: February 1, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 12 Years to 75 Years

Eligibility

Inclusion Criteria:

• Understand and sign the informed consent form before starting any study procedure.

• Adult or Child: aged 12 years of age or older (consent must be signed by a single parent or legal guardian).

• Angioedema symptoms and signs by medical history, or previous laboratory diagnostic testing, or genetically proven cases (e.g. SERPING1 or other mutation). Patients can be on active medication for the treatment and prophylaxis of angioedema. Angioedema cases must be verified by a clinician from IAA.

• Able to perform and endure safely the collection of peripheral blood samples (venipuncture), or optionally agree to have additional testing via a skin punch biopsy.

Exclusion Criteria:

• Minor: 11 years of age or younger.

• Cannot read or understand the informed consent form and instructions.

• Unable to perform the peripheral blood sample collection.

• Taking medications contraindicated for testing.

• History of excessive bleeding after phlebotomy, e.g. Hemophilia.

• Contraindication due to other health-related issues.

Related Conditions & MeSH terms

• Angioedema
• C1 Inhibitor Deficiency
• Indolent Systemic Mastocytosis
• Mastocytosis
• Urticaria

Intervention

Diagnostic Test:
• Venipuncture
venipuncture

Locations

Country	Name	City	State
n/a

Sponsors (4)

Lead Sponsor	Collaborator
Foundation For Rare Disease Research	Institute for Asthma & Allergy, MedBio Reference Laboratories, Inc., Virant Diagnostics, Inc.

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Novel versus traditional diagnostic blood test for angioedema	Determining whether novel test methods can be more efficient than currently available or traditional laboratory test for angioedema diagnosis	2 years
Secondary	Genetic analysis of angioedema versus non-angioedema affected populations	Genetic testing that include know angioedema mutations, such as SERPING1	2 years
Secondary	Development of novel Bradykinin biomarkers	Mass Spectrometry analysis of plasma for bradykinin metabolites	2 years
Secondary	Immunoassay laboratory developed tests for angioedema	development of novel immunoassay biomarkers, such as the detection of cleaved HMWK	2 years
Secondary	Lymphocyte profile studies	Determine whether the immune system has a role in angioedema attacks	2 years