Publications by authors named "K Peerlinck"
Background: Severe hemophilia A (HA) negatively impacts health-related quality of life (HRQOL).
Objectives: We aimed to analyze HRQOL in adult men with severe HA without inhibitors after valoctocogene roxaparvovec gene transfer in the phase 3 trial GENEr8-1.
Methods: Participant-reported outcomes were the hemophilia-specific quality of life questionnaire for adults (Haemo-QOL-A), the EQ-5D-5L instrument, the Hemophilia Activities List (HAL), and the Work Productivity and Activity Impairment Questionnaire: Hemophilia Specific (WPAI+CIQ:HS).
Background: Emicizumab is approved to prevent bleeding in patients with congenital haemophilia A with or without inhibitors. However, no randomized trials addressed the efficacy of emicizumab in acquired haemophilia A (AHA).
Aims: To report the clinical and biochemical response of emicizumab in AHA.
Article Synopsis
- The study investigates the effects of gene therapy (etranacogene dezaparvovec) for treating moderate-to-severe hemophilia B, comparing it with traditional factor IX replacement therapy.
- A phase 3 open-label trial involved 54 men who received a single infusion of AAV5 vector after a lead-in period of factor IX prophylaxis, with the goal of reducing annualized bleeding rates.
- Results showed a significant decrease in bleeding rates from 4.19 to 1.51 and an increase in factor IX activity, demonstrating that gene therapy is not only noninferior but also superior to standard treatment.
Pathogenic missense variants in SLFN14, which encode an RNA endoribonuclease protein that regulates ribosomal RNA (rRNA) degradation, are known to cause inherited thrombocytopenia (TP) with impaired platelet aggregation and adenosine triphosphate secretion. Despite mild laboratory defects, the patients displayed an obvious bleeding phenotype. However, the function of SLFN14 in megakaryocyte (MK) and platelet biology remains unknown.
View Article and Find Full Text PDFBackground: The international study ThromboGenomics has evaluated the diagnostic rate using a targeted multigene panel test for the screening of inherited bleeding, thrombotic and platelet disorders.
Objectives: We retrospectively analyzed the results of the implementation of genetic testing for inherited bleeding, thrombotic and platelet disorders in Belgian clinical practice and evaluated possible reclassification of reported variants.
Patients/methods: We implemented a Thrombosis-Hemostasis multigene panel test using whole exome sequencing to diagnose 487 patients recruited by 27 different Belgian hospitals with the implementation of stringent laboratory accreditation standards and by studying up to 100 diagnostic-grade genes.