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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Lookup NU author(s): Dr Catherine Bladen, Rachel ThompsonORCiD, Dr Karen Rafferty, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Professor Hanns Lochmuller

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Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.


Publication metadata

Author(s): Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GVG, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2014

Volume: 261

Issue: 1

Pages: 152-163

Print publication date: 01/01/2014

Online publication date: 27/10/2013

Acceptance date: 09/10/2013

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer

URL: http://dx.doi.org/10.1007/s00415-013-7154-1

DOI: 10.1007/s00415-013-7154-1


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Funding

Funder referenceFunder name
VUL 317/2007EU
Association Francais contre les Myopathies
Fondation Suisse de Recherche sur les Maladies Musculaires (FSRMM)
Fundacion Hospitales San Javier
GENAME Project (Hospital Sant Pau, Hospital Ramon y Cajal, Hospital La Fe, Hospital Virgen del Rocio, Hospital Sant Joan de Deu and Hospital Valle Hebron), Spain
International Spinal Muscular Atrophy Patient Registry (Indiana University)
Ministry statutory grant to the Department of Neurology, Warsaw (Poland), KUKAS (Registry of Neuromuscular Disorders at Hacettepe)
Neuromuscular Research Foundation Trust (New Zealand)
Princes Beatrix Spierfonds and the Spieren voor Spieren Foundation (the Netherlands)
Rotary International, Fundacion Atrofia Muscular Espinal (FUNDAME Spain)
Schweizerische Muskelgesellschaft (Switzerland)
Association de la Suisse Romande et Italienne contre les Myopathies (ASRIM)
Families of SMA (USA)
Instituto Jalisciense de Asistencia Social
Italian Association of Patients with Neuromuscular Diseases (Italy)
Jennifer Trust for Spinal Muscular Atrophy
Mexican Social Security Institute (IMSS)
Universidad de Guadalajara
01GM0302German Ministry of Education and Research
036825EU
16104AFM
641/N-TREAT/09/2010/0Ministry of Science and Higher Education

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