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.
