|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
C1 inhibitor (C1Inh) deficiency is responsible for hereditary angioedema (C1-INH-HAE) and caused by variants of the SERPING1/C1INH/C1NH gene.
|
31517426 |
2020 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
These studies suggest that measurement of functional C1-INH activity may be useful as a biomarker of the risk of an attack in patients with HAE who are receiving long-term prophylaxis with plasma-derived C1-INH.
|
31655295 |
2020 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
This article reviewed the rationale for using C1-INH replacement therapy in patients with HAE and the process of manufacturing plasma-derived C1-INH.
|
31796151 |
2020 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
Hereditary angioedema (HAE) is a rare C1-inhibitor (C1-INH) deficiency disease.
|
31841366 |
2020 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary angioedema (HAE) is a rare, autosomal dominant, genetic disorder associated with a deficiency in C1 inhibitor protein.
|
30582490 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In hereditary angioedema (HAE), genetic mutations result in deficient or dysfunctional C1-INH and dysregulation of the contact system leading to recurrent, sometimes fatal, angioedema attacks.
|
30817230 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
Patients with confirmed diagnosis of HAE secondary to C1-inhibitor (C1-INH) deficiency (<i>n</i> = 2) and HAE with normal C1-INH and <i>F12</i> mutation (F12-HAE) (<i>n</i> = 1) were included.
|
31058156 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Collectively, our data link abnormal accumulation of serpins, a hallmark of serpinopathies, with dominant-negative disease mechanisms affecting C1INH plasma levels in HAE type I patients, and may pave the way for new treatments of HAE.
|
30398465 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
The pre-specified primary efficacy endpoint was the time-normalized number of HAE attacks, and pre-specified secondary efficacy endpoints were the percentage of patients with a certain treatment response (≥ 50% reduction on C1-INH (SC) versus placebo in the time-normalized number of attacks) and the time-normalized number of use of rescue medication.
|
31485239 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
The impaired synthesis or function of C1 inhibitor results in the development of hereditary angioedema (HAE).
|
31421540 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the first-degree relatives group, 30 new cases of HAE C1INH (60%) were identified.
|
31262382 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, administration of WT SERPING1 gene is able to restore the levels of secreted C1INH, thereby opening up a novel mechanism justifying gene therapy for HAE.
|
30530986 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Treatment options for HAE with deficient and dysfunctional C1-inhibitor are expanding to include small-molecule drugs that inhibit protein interactions in the kallikrein-kinin system.
|
31635497 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
A randomized trial of human C1 inhibitor prophylaxis in children with hereditary angioedema.
|
30968444 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
For the prevention of attacks of hereditary angioedema (HAE), the efficacy and safety of subcutaneous human C1-esterase inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) was established in the 16-week Clinical Study for Optimal Management of Preventing Angioedema with Low-Volume Subcutaneous C1-Inhibitor Replacement Therapy (COMPACT).
|
30772477 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary angioedema (HAE) is a genetic disorder mostly caused by mutations in the C1 esterase inhibitor gene (C1INH) that results in poor control of contact pathway activation and excess bradykinin generation.
|
30463937 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
However, mesenteric vessels were patent, and laboratory testing for hereditary angioedema showed a normal C1 Esterase Inhibitor level and low C3 and C4 levels.Infectious work-up was negative.
|
31236395 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, 15 genes related to the Kallikrein-Kinin System (KKS) were analyzed by next generation sequencing in 59 patients with C1-INH-HAE or F12-HAE from Brazil, Denmark and Spain, and 19 healthy relatives in a total of 31 families.
|
30847342 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HAE is caused by SERPING1 gene mutations resulting in decreased or dysfunctional plasma protease C1 inhibitor (C1-INH) leading to a loss of inhibition of plasma kallikrein activity with subsequent cleavage of high-molecular weight kininogen and release of bradykinin.
|
31347612 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Subtle SERPING1 exon 3 splicing regulation can contribute to overall C1INH plasma levels and HAE pathogenesis.
|
30685616 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
New to the 2019 version of this guideline are sections covering the diagnosis and recommended therapies for acute treatment in HAE patients with normal C1-INH, as well as sections on pregnant and paediatric patients, patient associations and an HAE registry.
|
31788005 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
To study the efficacy of AAVrh.10hC1EI, we used CRISPR/Cas9 technology to create a heterozygote C1EI-deficient mouse model (S63±) that shares characteristics associated with HAE in humans including decreased plasma C1EI and C4 levels.
|
30059156 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
Of the three types of HAE, type 1 is most common, occurring in approximately 85% of patients and characterized by decreased production of C1-INH, which results in reduced functional activity to 5-40% of normal.
|
31690390 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results showed that the EQT could be used as a simple, rapid, and efficient diagnosis test for analysis of large deletions and insertions involving SERPING1, otherwise not detected by Sanger sequencing, serving as a support technique for molecular diagnosis of HAE.
|
30389558 |
2019 |
|
Angioedemas, Hereditary
|
0.600 |
Biomarker
|
disease |
BEFREE |
Novel therapeutic modalities for treatment and prevention of hereditary angioedema are now available, such as different forms of C1 inhibitor concentrate and novel agents that interfere in the kallikrein-kinin system.
|
31676220 |
2019 |