Biomarker for Hereditary AngioEdema Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

42 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-08-20

Study Completion Date

2022-03-11

Brief Summary

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International, multicenter, observational, longitudinal monitoring study to identify, validate and/or monitor Mass Spectrometry (MS)-based biomarker/s for Hereditary Angioedeme (HAE) disease and to test the clinical robustness, specificity, and predictive value of theese biomarker/s

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Detailed Description

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Hereditary Angioedema (HAE) is a rare autosomal dominant genetic disorder, characterized by recurrent episodes of angioedema of the face, larynx, lips, abdomen, and extremities.The most common types of HAE develop as result of mutations in the SERPING1 gene that encodes the C1 inhibitor (C1-INH), a protease involved in limiting bradykinin production. Excessive bradykinin due to low levels of C1-INH (HAE type 1) or dysfunctional C1-INH (HAE type 2) leads to capillary leakage and angioedema formation. The third type of HAE is not associated with a C1-INH deficiency, develops as a result of mutations in the Factor 12 gene (FXII) and affects almost exclusively women. Rare cases of HAE have also been described resulting from mutations in Plasminogen (PLG), Angiopoetin 1 (ANGPT1), and Kininogen 1 (KNG1).

The characteristic symptom of hereditary angioedema is recurrent episodes of swelling due to the accumulation of excessive body fluid. The most commonly affected areas of the body include the hands, feet, eyelids, lips, genitals, larynx and gastrointestinal tract. The most serious complication of HAE is laryngeal edema that can become life threatening; but it is a relatively rare event.

The diagnosis of hereditary angioedema is made by a thorough clinical evaluation, a detailed patient history, and blood tests.Clinical diagnosis is complicated because HAE is highly variable in the clinical phenotype and the majority of the physicians believe that they never seen a patient with that disorder. Laboratory diagnosis involves measurement of the C1-INH function, C1-INH and C4 levels. Both C1-INH protein level and function is low in HAE-1 patients, whereas in HAE-2 individuals the C1-INH concentrations is optimal or even elevated, however C1-INH function is impaired. Generally, C4 levels are low in both HAE-1/2 patients.

CENTOGENE utilizes Liquid Chromatography-Multiple Reaction Monitoring Mass Spectrometry (LC-MRM-MS) method to identify potential disease-specific biomarkers for HAE. Such biomarker/s may support the early diagnosis and treatment monitoring and personalization in the future.

Therefore, it is the goal of this study is to identify new biomarkers for HAE, validate the identified biomarkers, and monitor these biomarkers longitudinally to determine their clinical robustness, specificity, and predictive value.

Conditions

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C1 Esterase Inhibitor Deficiency Angio Edema C4 Deficiency HAE Hereditary Angioedema Hereditary Angioedema Type II Hereditary Angioedema Type III Hereditary Angioedema Type I

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with Hereditary Angioedema

Participants diagnosed with Hereditary Angioedema disease aged between 2 months and 60 years

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Informed consent is obtained from the participant or participant's parent/legal guardian
* The participant is aged between 2 months and 60 years
* The diagnosis of Hereditary Angioedema is confirmed by CENTOGENE

Exclusion Criteria

* Inability to provide informed consent
* Participant is younger than 2 months or older than 60 years
* The diagnosis of Hereditary Angioedema disease is not confirmed by CENTOGENE

Minimum Eligible Age

2 Months

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No