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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03029728
Other study ID # BHAE 06-2018
Secondary ID
Status Completed
Phase
First received
Last updated
Start date August 20, 2018
Est. completion date March 11, 2022

Study information

Verified date March 2021
Source CENTOGENE GmbH Rostock
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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


Description:

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.


Recruitment information / eligibility

Status Completed
Enrollment 42
Est. completion date March 11, 2022
Est. primary completion date March 11, 2022
Accepts healthy volunteers No
Gender All
Age group 2 Months to 60 Years
Eligibility 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

Study Design


Locations

Country Name City State
Armenia Arabkir JMC-ICAH Yerevan
Georgia Center of Allergy and Immunology Tbilisi
India Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre Kerola
Peru Clinica San Pablo de Surco Lima
Poland Szpital Uniwersytecki w Krakowie Krakau
Romania Centrul Clinic Mediquest Târgu-Mures
Turkey Sakarya University Research and Training Hospital Sakarya

Sponsors (1)

Lead Sponsor Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Armenia,  Georgia,  India,  Peru,  Poland,  Romania,  Turkey, 

Outcome

Type Measure Description Time frame Safety issue
Primary Identification, validation and/or monitoring of mass spectrometry (MS)-based biomarkers of Hereditary Angioedema (HAE) patients All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC. 36 months
Secondary Determination of the clinical robustness, specificity, and predictive value of the biomarker(s) Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC. 36 months
See also
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