PedNet Haemophilia Research Foundation LinkedIn

Anne Marja-Terttu Mäkipernaa — Helsingfors universitet

Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines Nadine G Andersson, Veerle Labarque, Anna Letelier, Maria Elisa Mancuso, Martina Bührlen, Kathelijn Fischer, Mutlu Kartal-Kaess, Minna Koskenvuo, Torben Mikkelsen, Rolf Ljung & PedNet Study Group PedNet Study Group, 2020 dec, I: Human Mutation. 41, 12, s. 2058-2072 15 s. Patients with severe hemophilia A in the PedNet Hemophilia Registry database (www.pednet.nl) and the Research on Determinants of Inhibitors (RODIN) Study database (www.rodinstudy.eu) were included. The 2 databases constitute a joint research effort among 29 hemophilia centers in Europe, Israel, and Canada.

The aim of the study was to determine the incidence of intracranial hemorrhage and other major bleeds in neonates with moderate and severe hemophilia in relationship to mode of delivery and known family history. A total of 926 neonates, 786 with severe and 140 with moderate hemophilia were included in References; 1 Wight J, Paisley S.The epidemiology of inhibitors in haemophilia A: a systematic review.Haemophilia 2003; 9 (04) 418-435 ; 2 Gouw SC, van den Berg HM, Fischer K. , et al; PedNet and Research of Determinants of INhibitor development (RODIN) Study Group.Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study. PedNet Study Grp, Andersson, N. G., Labarque, V., Letelier, A., & Koskenvuo, M. (2020). NovelF8andF9gene variants from the PedNet hemophilia registry classified Research on hemophilia with focus on genetic and clinical studies.

To establish a large well-documented birth cohort of patients with haemophilia enabling studies on early presentation, side effects and outcome of treatment. Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines Nadine G Andersson, Veerle Labarque, Anna Letelier, Maria Elisa Mancuso, Martina Bührlen, Kathelijn Fischer, Mutlu Kartal-Kaess, Minna Koskenvuo, Torben Mikkelsen, Rolf Ljung & PedNet Study Group PedNet Study Group, 2020 dec, I: Human Mutation.

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Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift The PedNet Registry is a prospective, multicenter database that includes all children born since 1 January 2000 diagnosed with hemophilia A (HA) or B (HB) of all severities and treated in the 31 participating hemophilia centers in Europe, Canada and Israel. 14 Baseline data regarding the neonatal period are collected on mode of delivery, neonatal events, family history of hemophilia, and gestational … The PedNet study group is an established network of 31 haemophilia treatment centres (HTCs) from 18 countries specialized in the treatment of children with haemophilia (www.pednet.eu). 2 A survey was designed and agreed upon by three members of the group including the topics that seemed most relevant and send to the principal investigator of each centre. TY - JOUR.

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It manages a database ( Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACM G/AMP guidelines. Referentgranskad. Öppen tillgång. NovelF8andF9gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines. PedNet Study Grp, Andersson, N. G., Labarque PedNet Haemophilia Res Fdn, Andersson, N. G., Chalmers, E. A., Kenet, G., Mäkipernaa, A. & Chambost, H., 30 sep 2019, I : Haematologica.

Haematologica 2014 Dec 19 [Epub]. Twenty‐one haemophilia treatment centres have been collecting data on all children with haemophilia with FVIII/IX levels up to 25% born from 2000 onwards. Another eight centres collected data on severe haemophilia A only. At baseline, details on delivery and diagnosis, gene mutation, family history of haemophilia and inhibitors are collected.
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doi: 10.3324/haematol.2018.209619. Epub 2019 Feb 21.

Methods: We included 375 PUPs with severe haemophilia A (<0.01 IU/mL) from the PedNet Registry who had received vaccinations between the first and 75th ED or inhibitor development.
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Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines This study was a follow-up study of the PedNet Registry and included 260 children with severe haemophilia A and inhibitors born between 1990 and 2009 and recruited consecutively from 31 haemophilia centres. Clinical and laboratory data were collected from the date of each child's first positive inhibitor test for at least 3 years.

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Minna Koskenvuo — Helsingfors universitet

The aim of the PedNet registry is to include complete cohorts of all newly diagnosed patients born from 01-01-2000 with congenital haemophilia A and B factor VIII/ IX ≤ 0.25 IU/ dl and treated in one of the 31 participating centres . Overview [5] 2020-01-29 The PedNet Registry follows the international classification for hemophilia valid when the Registry was initiated (i.e., severe form FVIII/FIX <1%, moderate 1–5%, and mild with 6–25%) and not the present classification where the mild form is defined as 6–40% (Blanchette et al., 2014).