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Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry

Fischer, K.; Ljung, Rolf LU ; Platokouki, H.; Liesner, R.; Claeyssens, S.; Smink, E. and Van den Berg, H. M. (2014) In Haemophilia 20(4). p.280-286
Abstract
Haemophilia is a rare disease. To improve knowledge, prospective studies of large numbers of subjects are needed. To establish a large well-documented birth cohort of patients with haemophilia enabling studies on early presentation, side effects and outcome of treatment. 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. For the first 75 exposure days, date, reason, dose and product are recorded for each infusion. Clinically relevant inhibitors are... (More)
Haemophilia is a rare disease. To improve knowledge, prospective studies of large numbers of subjects are needed. To establish a large well-documented birth cohort of patients with haemophilia enabling studies on early presentation, side effects and outcome of treatment. 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. For the first 75 exposure days, date, reason, dose and product are recorded for each infusion. Clinically relevant inhibitors are defined as follows: at least two positive inhibitor titres and a FVIII/IX recovery <66% of expected. For inhibitor patients, results of all inhibitor- and recovery tests are collected. For continued treatment, data on bleeding, surgery, prophylaxis and clotting factor consumption are collected annually. Data are downloaded for analysis annually. In May 2013, a total of 1094 patients were included: 701 with severe, 146 with moderate and 247 with mild haemophilia. Gene defect data were available for 87.6% of patients with severe haemophilia A. The first analysis, performed in May 2011, lead to two landmark publications. The outcome of this large collaborative research confirms its value for the improvement of haemophilia care. High-quality prospective observational cohorts form an ideal source to study natural history and treatment in rare diseases such as haemophilia. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cohort study, inhibitors, outcome, phenotype, prophylaxis, study design
in
Haemophilia
volume
20
issue
4
pages
280 - 286
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • wos:000337976400006
  • scopus:84904648385
ISSN
1351-8216
DOI
10.1111/hae.12448
language
English
LU publication?
yes
id
c11fdcbf-78d2-4c50-8e81-c266fe1762bd (old id 4608947)
date added to LUP
2014-09-01 07:38:44
date last changed
2017-08-27 03:24:07
@article{c11fdcbf-78d2-4c50-8e81-c266fe1762bd,
  abstract     = {Haemophilia is a rare disease. To improve knowledge, prospective studies of large numbers of subjects are needed. To establish a large well-documented birth cohort of patients with haemophilia enabling studies on early presentation, side effects and outcome of treatment. 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. For the first 75 exposure days, date, reason, dose and product are recorded for each infusion. Clinically relevant inhibitors are defined as follows: at least two positive inhibitor titres and a FVIII/IX recovery &lt;66% of expected. For inhibitor patients, results of all inhibitor- and recovery tests are collected. For continued treatment, data on bleeding, surgery, prophylaxis and clotting factor consumption are collected annually. Data are downloaded for analysis annually. In May 2013, a total of 1094 patients were included: 701 with severe, 146 with moderate and 247 with mild haemophilia. Gene defect data were available for 87.6% of patients with severe haemophilia A. The first analysis, performed in May 2011, lead to two landmark publications. The outcome of this large collaborative research confirms its value for the improvement of haemophilia care. High-quality prospective observational cohorts form an ideal source to study natural history and treatment in rare diseases such as haemophilia.},
  author       = {Fischer, K. and Ljung, Rolf and Platokouki, H. and Liesner, R. and Claeyssens, S. and Smink, E. and Van den Berg, H. M.},
  issn         = {1351-8216},
  keyword      = {cohort study,inhibitors,outcome,phenotype,prophylaxis,study design},
  language     = {eng},
  number       = {4},
  pages        = {280--286},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {Haemophilia},
  title        = {Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry},
  url          = {http://dx.doi.org/10.1111/hae.12448},
  volume       = {20},
  year         = {2014},
}