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

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 sy...

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Autores principales: Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, 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, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126043/
https://www.ncbi.nlm.nih.gov/pubmed/30185236
http://dx.doi.org/10.1186/s13023-018-0889-0
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author Wood, Libby
Bassez, Guillaume
Bleyenheuft, Corinne
Campbell, Craig
Cossette, Louise
Jimenez-Moreno, Aura Cecilia
Dai, Yi
Dawkins, Hugh
Manera, Jorge Alberto Diaz
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
van Engelen, Baziel
Vohanka, Stanislav
Lochmüller, Hanns
author_facet Wood, Libby
Bassez, Guillaume
Bleyenheuft, Corinne
Campbell, Craig
Cossette, Louise
Jimenez-Moreno, Aura Cecilia
Dai, Yi
Dawkins, Hugh
Manera, Jorge Alberto Diaz
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
van Engelen, Baziel
Vohanka, Stanislav
Lochmüller, Hanns
author_sort Wood, Libby
collection PubMed
description 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 €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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0889-0) contains supplementary material, which is available to authorized users.
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spelling pubmed-61260432018-09-10 Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease Wood, Libby Bassez, Guillaume Bleyenheuft, Corinne Campbell, Craig Cossette, Louise Jimenez-Moreno, Aura Cecilia Dai, Yi Dawkins, Hugh Manera, Jorge Alberto Diaz 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 van Engelen, Baziel Vohanka, Stanislav Lochmüller, Hanns Orphanet J Rare Dis Research 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 €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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0889-0) contains supplementary material, which is available to authorized users. BioMed Central 2018-09-05 /pmc/articles/PMC6126043/ /pubmed/30185236 http://dx.doi.org/10.1186/s13023-018-0889-0 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Wood, Libby
Bassez, Guillaume
Bleyenheuft, Corinne
Campbell, Craig
Cossette, Louise
Jimenez-Moreno, Aura Cecilia
Dai, Yi
Dawkins, Hugh
Manera, Jorge Alberto Diaz
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
van Engelen, Baziel
Vohanka, Stanislav
Lochmüller, Hanns
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title_full Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title_fullStr Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title_full_unstemmed Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title_short Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
title_sort eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126043/
https://www.ncbi.nlm.nih.gov/pubmed/30185236
http://dx.doi.org/10.1186/s13023-018-0889-0
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