Eight years after an international workshop on myotonic
dystrophy patient registries: case study of a global
collaboration for a rare disease

J 2018

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

WOOD, Libby, Guillaume BASSEZ, Corinne BLEYENHEUFT, Craig CAMPBELL, Louise COSSETTE et. al.

Basic information

Original name

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Authors

WOOD, Libby (826 United Kingdom of Great Britain and Northern Ireland, guarantor), Guillaume BASSEZ (250 France), Corinne BLEYENHEUFT (56 Belgium), Craig CAMPBELL (124 Canada), Louise COSSETTE (124 Canada), Aura Cecilia JIMENEZ-MORENO (826 United Kingdom of Great Britain and Northern Ireland), Yi DAI (156 China), Hugh DAWKINS (36 Australia), Jorge Alberto MANERA (724 Spain), Celine DOGAN (250 France), Rasha EL SHERIF (818 Egypt), Barbara FOSSATI (380 Italy), Caroline GRAHAM (36 Australia), James HILBERT (840 United States of America), Kristinia KASTREVA (100 Bulgaria), En KIMURA (392 Japan), Lawrence KORNGUT (124 Canada), Anna KOSTERA-PRUSZCZYK (616 Poland), Christopher LINDBERG (752 Sweden), Bjorn LINDVALL (752 Sweden), Elizabeth LUEBBE (840 United States of America), Anna LUSAKOWSKA (616 Poland), Radim MAZANEC (203 Czech Republic), Giovani MEOLA (724 Spain), Liannna ORLANDO (840 United States of America), Masanori P. TAKAHASHI (392 Japan), Stojan PERIC (688 Serbia), Jack PUYMIRAT (688 Serbia), Vidosava RAKOCEVIC-STOJANOVIC (688 Serbia), Miriam RODRIGUES (554 New Zealand), Richard ROXBURGH (554 New Zealand), Benedikt SCHOSER (276 Germany), Sonia SEGOVIA (724 Spain), Andriy SHATILLO (804 Ukraine), Simone THIELE (276 Germany), Ivailo TOURNEV (528 Netherlands), van Baziel ENGELEN (528 Netherlands), Stanislav VOHÁŇKA (203 Czech Republic, belonging to the institution) and Hanns LOCHMULLER (276 Germany)

Edition

ORPHANET JOURNAL OF RARE DISEASES, LONDON, BMC, 2018, 1750-1172

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.687

RIV identification code

RIV/00216224:14110/18:00104212

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1186/s13023-018-0889-0

UT WoS

000443735900002

Keywords in English

Myotonic dystrophy; Registries; Clinical trials; Trial readiness

Abstract

V originále

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.

Citovat

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.

@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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