Identification and Characterization of Genetic Variants in Hereditary Angioedema

Launched by HOSPITAL UNIVERSITARI VALL D'HEBRON RESEARCH INSTITUTE · Apr 17, 2023

Keywords

ClinConnect Summary

This clinical trial is looking to understand the genetic differences that may affect how hereditary angioedema (HAE) presents in patients. HAE is a condition that causes sudden swelling in various parts of the body, and it can vary from person to person. By studying the genes of people with HAE, researchers hope to identify specific genetic markers that can help predict the severity and frequency of symptoms in patients. This information could ultimately lead to better treatments and management strategies for individuals living with this condition.

To participate in this trial, you must be an adult aged 18 or older with a confirmed diagnosis of HAE related to a deficiency in a protein called C1 inhibitor. This diagnosis can be confirmed through genetic testing or specific blood tests. The trial is not yet recruiting participants, so there’s no immediate action needed. If you qualify and choose to participate, you will be contributing to important research that may improve understanding and treatment of HAE in the future. Remember, all participants will need to provide consent for their involvement in the study.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function \<50% in two determinations together with a family history (symptomatic patients' group)
• • Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function \<50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH
• • Signed informed consent.
• Exclusion Criteria:
• • No confirmed C1INH deficiency.
• • Inability to sign the informed consent.
• • Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and/or epinephrine)