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Angioedema Biomarker Research Study

Launched by FOUNDATION FOR RARE DISEASE RESEARCH · Jan 8, 2024

Trial Information

Current as of June 26, 2025

Not yet recruiting

Keywords

Angioedema C1 Inhibitor Deficiency C1 Inhibitor Dysfunction Hereditary Angioedema Hae Ace Inhibitor Induced Angioedema Serum Tryptase Mastocytosis Systemic Mastocytosis Indolent Systemic Mastocytosis

ClinConnect Summary

The Angioedema Biomarker Research Study aims to improve the way we diagnose angioedema, a condition that causes swelling in various parts of the body. Researchers will compare new blood tests with existing ones to see which methods work best for identifying the different types of angioedema, including hereditary forms and those caused by medications like ACE inhibitors. The ultimate goal is to create a reliable and affordable test that doctors can use to diagnose this condition accurately.

To participate in the study, individuals must be at least 12 years old and have a history of angioedema symptoms or have been diagnosed with the condition through previous tests. They should be able to provide a blood sample safely, and it's okay if they are currently taking medication for angioedema. However, children under 12 and those who cannot understand the consent process or have certain health issues will not be eligible. Participants can expect to undergo blood tests and possibly a small skin biopsy to help with the research. This study is not yet recruiting participants, but it represents an important step towards better diagnosis and treatment for people with angioedema.

Gender

ALL

Eligibility criteria

  • 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.

About Foundation For Rare Disease Research

The Foundation for Rare Disease Research is a dedicated non-profit organization committed to advancing the understanding, treatment, and care of rare diseases through innovative clinical research. By fostering collaboration among researchers, healthcare providers, and patient communities, the Foundation aims to accelerate the development of effective therapies and improve outcomes for individuals affected by rare conditions. With a focus on transparency, ethical standards, and patient-centered approaches, the Foundation plays a pivotal role in transforming scientific discoveries into tangible health solutions.

Locations

Patients applied

0 patients applied

Trial Officials

Lili Wan, PhD

Study Director

Institute for Asthma & Allergy

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported