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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4608947
- author
- Fischer, K.
; Ljung, Rolf
LU
; Platokouki, H.
; Liesner, R.
; Claeyssens, S.
; Smink, E.
and Van den Berg, H. M.
- organization
- publishing date
- 2014
- 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
- Wiley-Blackwell
- external identifiers
-
- wos:000337976400006
- scopus:84904648385
- pmid:24784937
- 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
- 2016-04-01 10:24:13
- date last changed
- 2022-08-27 17:10:50
@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 <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}},
keywords = {{cohort study; inhibitors; outcome; phenotype; prophylaxis; study design}},
language = {{eng}},
number = {{4}},
pages = {{280--286}},
publisher = {{Wiley-Blackwell}},
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}},
doi = {{10.1111/hae.12448}},
volume = {{20}},
year = {{2014}},
}