A Prospective, Open- Label, Single-country (Algeria), Interventional Study to Assess Measurements of Functional C1-inhibitor Alone for Hereditary Angioedema Diagnosis: The AHAE Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 514
- 试验地点
- 1
- 主要终点
- Sensitivity and Specificity of Technochrom Compared to Standard of Care (SoC) for HAE Diagnosis
研究概览
简要总结
Hereditary angioedema (HAE) is a rare condition. It causes sudden swelling under the skin and inside the body, like in the belly, throat, or genitals. This swelling happens because of a temporary leak in blood vessels but does not cause itching or hives. HAE is classified based on the amount of a protein in the blood called C1-inhibitor (C1INH): HAE with normal C1INH levels and function (HAE-nC1INH) and HAE with deficiency in C1INH levels (HAE-C1INH-Type1) or dysfunction (HAE-C1INH-Type2). This study will focus on the practical use and accuracy of measuring the C1INH function alone to diagnose HAE-C1INH-Type1 and HAE-C1INH-Type2 compared to the tests used in normal clinical practice in Algeria.
The main goal of the study is to see how well a test focusing on the C1INH function alone works to diagnose HAE-C1INH as compared to the tests used in normal clinical practice (standard of care or SoC) in Algeria. Another aim is to determine a reference value (helps in determining the accuracy) of the C1INH function test. This study will also help to find out how many people who are thought to have HAE or who have family members with HAE actually get diagnosed and to gather participants' health background information, such as their age when they were diagnosed, what signs and symptoms they had, how long it took to get diagnosed, and how they were sent to the doctors or specialists who treated them.
During the study all participants will undergo two different methods of HAE testing: the test focusing on the C1INH function alone and the SoC tests. Test results will be confirmed via a second test run for newly index cases or for discordant results, but participants with a test result of "no HAE" and positive cases recruited through family screening will not undergo a second confirmatory test. In case of discordant test results in the second round, participants will undergo a third confirmatory test round. Participants can visit the clinic up to three times during the study. No further follow up is planned for participants, even for those who are diagnosed with HAE.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult and pediatric participants of both sexes (children over the age of 12 years).
- •Participants providing a signed informed consent form (ICF), or parental consent for minors.
- •Participants should also meet one of the 2 inclusion criteria below:
- •Participants with a high suspicion of bradykinin-mediated HAE, referred to the center. This includes recurrent episodes of nonpitting angioedema without urticaria or itching, lasting between 1 and 5 days, and non-responsive to antihistamine and corticosteroid treatments.
- •Family members (from 1st to 4th degree relatives) of known HAE participants.
排除标准
- •Confirmed diagnosis of HAE-C1INH-Type1 or HAE-C1INH-Type
- •Angioedema with urticaria or itching (suggesting histaminergic etiology).
- •Angioedema episodes lasting less than (<)1 day or greater than (>)5 days (not consistent with bradykinin-mediated HAE).
- •Any condition deemed unsuitable by the investigator that may interfere with study procedures or data integrity.
研究组 & 干预措施
Suspected HAE Participants
Participants with suspected HAE having a high suspicion of bradykinin-mediated HAE (no urticaria or itching, lasting between 1 and 5 days, non-responsive to antihistamine and corticosteroid treatments) and/or family members of known HAE participants will be enrolled in the study.
干预措施: Technochrom C1-INH Kit (Diagnostic Test)
结局指标
主要结局
Sensitivity and Specificity of Technochrom Compared to Standard of Care (SoC) for HAE Diagnosis
时间窗: Up to 12 months
The diagnostic accuracy of isolated functional C1-inhibitor (C1-INH) measurement using Technochrom C1-INH kits, compared to the SoC (McNemar's test) as confirmatory testing for HAE diagnosis will be reported.
次要结局
- Laboratory-specific Cut-off Values for Functional C1-INH Measurement Using Technochrom(Up to 12 months)
- Sensitivity and Specificity of Technochrom Compared to Isolated Complement Component Test (C4 assay) for HAE Detection(Up to 12 months)
- Likelihood Ratios of Technochrom Compared to Isolated C4 Assay for HAE Detection(Up to 12 months)
- Sensitivity and Specificity of Technochrom Compared to C4 Assay and C1-INH Antigenic Testing(Up to 12 months)
- Likelihood Ratios of Technochrom Compared to C4 Assay and C1-INH Antigenic Testing(Up to 12 months)
- Diagnostic Performance of Technochrom in Detecting Functional C1-INH Deficiency and its Impact on Accuracy and Reliability in Clinical Practice(Up to 12 months)
- Number of Participants Categorized by Their Epidemiological, Clinical and Biological Characteristics(Up to 12 months)
- Diagnostic Rate of Functional C1-INH Deficiency Using Technochrom in Highly Suspected Participants and Family Screening(Up to 12 months)