BJH - volume 12, issue 3, may 2021
C. Van Laer PharmD, M. Jacquemin MD, PhD, K. Peerlinck MD, PhD, K. Freson PhD
The international study ThromboGenomics has developed and tested a targeted high-throughput sequencing (HTS) multi-gene panel test for diagnostics of patients with rare bleeding, thrombotic or platelet disorders (BTPD). After the initial validation of this research platform, 2396 index patients were sequenced and a mean diagnostic rate of 49.2% was reached for all thrombotic, coagulation, platelet count and function disorder patients while this rate dropped to 3.2% for patients with unexplained bleeding disorders that were characterised by normal haemostasis test results. Since early 2019, a similar HTS test for BTPD has been implemented in Belgium in a clinical diagnostic setting. This test screens 96 diagnostic-grade genes and is updated yearly with novel genes. Upon inclusion, clinicians can opt for one of the three panels: 1) (anti)coagulation panel test for abnormal bleeding or thrombosis, 2) platelet disorder panel test for inherited thrombocytopenia or known platelet dysfunctions and 3) the unexplained bleeding panel test but with evidence for Ehlers-Danlos Syndrome or Rendu-Osler-Weber disease. Inclusion and exclusion criteria for patients eligible for such HTS will be discussed. The submission of detailed information about clinical phenotype, family history and laboratory test results is critical for the interpretation of the genetic results. The aim is to provide results to clinicians and patients with a detailed report that discusses variant interpretation.
(BELG J HEMATOL 2020;12(3):99-105)
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BJH - 2019, issue ?, february 2019
B. Calcoen MD, I. Van Horenbeeck , M. Debasse , J. Toelen , I. Vanlinthout , J. Schoeters , K. Peerlinck MD, PhD, M. Jacquemin MD, PhD
BJH - 2019, issue ?, february 2019
D.l.j. Van Den Bossche , J. Toelen , K. Peerlinck MD, PhD, M. Jacquemin MD, PhD
BJH - volume 9, issue 5, september 2018
D. van den Bossche MSc, M. Jacquemin MD, PhD, K. Peerlinck MD, PhD
In the past few years, several new treatment options for haemophilia A and B have emerged. Formerly, replacement therapy comprised plasma-derived and recombinant factor VIII and IX concentrates containing human- and animal-derived components associated with a potential risk of contamination with infectious agents. Further optimisation of the manufacturing procedures virtually eliminated these hazards. Nowadays, the major drawbacks of the standard plasma-derived and recombinant factor VIII and IX products are their relatively short half-life. To overcome these limitations, different therapeutic approaches were developed. Novel extended half-life rFVIII and rFIX concentrates allow a reduction of the injection frequency and improve the efficacy of therapy and the quality of life of haemophilia patients. Besides the prophylactic treatment options, important progress has been made in gene therapy. Currently, the major complication of the treatment with FVIII or FIX concentrates is the development of inhibitor antibodies. In these cases, bypassing agents allow treating or preventing bleedings. However, the currently available bypassing agents have a short half-life, which limit their use for prophylactic treatment. Accordingly, several new therapies are now being developed to treat patients with inhibitors, including rFVIIa with extended half-life, recombinant porcine FVIII and bispecific antibodies bridging FVIII and FIX.
(BELG J HEMATOL 2018;9(5):175–81)
Read moreBJH - volume 6, issue Abstract Book BSTH, november 2015
M. Peetermans , J. Toelen , J. Schoeters , K. Peerlinck MD, PhD, J. Van Ryn , T. Vanassche MD, PhD, P. Verhamme MD, PhD, M. Jacquemin MD, PhD
BJH - volume 6, issue Abstract Book BSTH, november 2015
L. Feyen , B. Izzi , R. Lavend’homme , T. Shahani , K. Peerlinck MD, PhD, M. Jacquemin MD, PhD
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