| WOOD, Libby, Guillaume BASSEZ, Corinne BLEYENHEUFT, Craig CAMPBELL, Louise COSSETTE, Aura Cecilia JIMENEZ-MORENO, Yi DAI, Hugh DAWKINS, Jorge Alberto MANERA, Celine DOGAN, Rasha EL SHERIF, Barbara FOSSATI, Caroline GRAHAM, James HILBERT, Kristinia KASTREVA, En KIMURA, Lawrence KORNGUT, Anna KOSTERA-PRUSZCZYK, Christopher LINDBERG, Bjorn LINDVALL, Elizabeth LUEBBE, Anna LUSAKOWSKA, Radim MAZANEC, Giovani MEOLA, Liannna ORLANDO, Masanori P. TAKAHASHI, Stojan PERIC, Jack PUYMIRAT, Vidosava RAKOCEVIC-STOJANOVIC, Miriam RODRIGUES, Richard ROXBURGH, Benedikt SCHOSER, Sonia SEGOVIA, Andriy SHATILLO, Simone THIELE, Ivailo TOURNEV, van Baziel ENGELEN, Stanislav VOHÁŇKA and Hanns LOCHMULLER. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. ORPHANET JOURNAL OF RARE DISEASES. LONDON: BMC, 2018, vol. 13, No 155, p. 1-11. ISSN 1750-1172. Available from: https://dx.doi.org/10.1186/s13023-018-0889-0. |
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@article{1455797,
author = {Wood, Libby and Bassez, Guillaume and Bleyenheuft, Corinne and Campbell, Craig and Cossette, Louise and JimenezandMoreno, Aura Cecilia and Dai, Yi and Dawkins, Hugh and Manera, Jorge Alberto and Dogan, Celine and el Sherif, Rasha and Fossati, Barbara and Graham, Caroline and Hilbert, James and Kastreva, Kristinia and Kimura, En and Korngut, Lawrence and KosteraandPruszczyk, Anna and Lindberg, Christopher and Lindvall, Bjorn and Luebbe, Elizabeth and Lusakowska, Anna and Mazanec, Radim and Meola, Giovani and Orlando, Liannna and Takahashi, Masanori P. and Peric, Stojan and Puymirat, Jack and RakocevicandStojanovic, Vidosava and Rodrigues, Miriam and Roxburgh, Richard and Schoser, Benedikt and Segovia, Sonia and Shatillo, Andriy and Thiele, Simone and Tournev, Ivailo and Engelen, van Baziel and Voháňka, Stanislav and Lochmuller, Hanns},
article_location = {LONDON},
article_number = {155},
doi = {http://dx.doi.org/10.1186/s13023-018-0889-0},
keywords = {Myotonic dystrophy; Registries; Clinical trials; Trial readiness},
language = {eng},
issn = {1750-1172},
journal = {ORPHANET JOURNAL OF RARE DISEASES},
title = {Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease},
volume = {13},
year = {2018}
}
TY - JOUR
ID - 1455797
AU - Wood, Libby - Bassez, Guillaume - Bleyenheuft, Corinne - Campbell, Craig - Cossette, Louise - Jimenez-Moreno, Aura Cecilia - Dai, Yi - Dawkins, Hugh - Manera, Jorge Alberto - Dogan, Celine - el Sherif, Rasha - Fossati, Barbara - Graham, Caroline - Hilbert, James - Kastreva, Kristinia - Kimura, En - Korngut, Lawrence - Kostera-Pruszczyk, Anna - Lindberg, Christopher - Lindvall, Bjorn - Luebbe, Elizabeth - Lusakowska, Anna - Mazanec, Radim - Meola, Giovani - Orlando, Liannna - Takahashi, Masanori P. - Peric, Stojan - Puymirat, Jack - Rakocevic-Stojanovic, Vidosava - Rodrigues, Miriam - Roxburgh, Richard - Schoser, Benedikt - Segovia, Sonia - Shatillo, Andriy - Thiele, Simone - Tournev, Ivailo - Engelen, van Baziel - Voháňka, Stanislav - Lochmuller, Hanns
PY - 2018
TI - Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
JF - ORPHANET JOURNAL OF RARE DISEASES
VL - 13
IS - 155
SP - 1-11
EP - 1-11
PB - BMC
SN - 17501172
KW - Myotonic dystrophy
KW - Registries
KW - Clinical trials
KW - Trial readiness
N2 - Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). Results: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over (sic) 200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. Conclusions: The community should consider how to maximise this collective resource in future therapeutic programmes.
ER -
WOOD, Libby, Guillaume BASSEZ, Corinne BLEYENHEUFT, Craig CAMPBELL, Louise COSSETTE, Aura Cecilia JIMENEZ-MORENO, Yi DAI, Hugh DAWKINS, Jorge Alberto MANERA, Celine DOGAN, Rasha EL SHERIF, Barbara FOSSATI, Caroline GRAHAM, James HILBERT, Kristinia KASTREVA, En KIMURA, Lawrence KORNGUT, Anna KOSTERA-PRUSZCZYK, Christopher LINDBERG, Bjorn LINDVALL, Elizabeth LUEBBE, Anna LUSAKOWSKA, Radim MAZANEC, Giovani MEOLA, Liannna ORLANDO, Masanori P. TAKAHASHI, Stojan PERIC, Jack PUYMIRAT, Vidosava RAKOCEVIC-STOJANOVIC, Miriam RODRIGUES, Richard ROXBURGH, Benedikt SCHOSER, Sonia SEGOVIA, Andriy SHATILLO, Simone THIELE, Ivailo TOURNEV, van Baziel ENGELEN, Stanislav VOHÁŇKA and Hanns LOCHMULLER. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. \textit{ORPHANET JOURNAL OF RARE DISEASES}. LONDON: BMC, 2018, vol.~13, No~155, p.~1-11. ISSN~1750-1172. Available from: https://dx.doi.org/10.1186/s13023-018-0889-0.
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