Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
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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.
KeywordsSpinal muscular atrophy Rare disease Disease registries TREAT-NMD
The authors would like to acknowledge the families of those living with Spinal Muscular Atrophy who have been instrumental in the formation of the SMA national registries. We also acknowledge former and current members of the TREAT-NMD office at the Institute of Genetic Medicine in Newcastle, including Agata Mertyn, Stephen Lynn and Emma Heslop. We also acknowledge the members of the current TGDOC: Jan Verschuuren (Chair), Hugh Dawkins (Chair elect), Anna Ambrosini, Svetlana Artemieva, Alexander N. Baranov, Farhad Bayat, Christophe Béroud, Ria Broekgaarden, Filippo Buccella, Craig Campbell, Nick Catlin, Monica Ensini, Pat Furlong, Kevin Flanigan, Ole Gredal, Lauren Hache, Serap İnal, Jacqueline Jackson, Pierre-Yves Jeannet, Anna Kaminska, A. Ayse Karaduman, Veronika Karcagi, En Kimura, Janbernd Kirschner, Jaana Lähdetie, Hanns Lochmüller, Vitaliy Matyushenko, Vedrana Milic-Rasic, Violeta Mihaylova, Marie-Christine Ouillade, Ian Murphy, Miriam Rodrigues, Rosario dos Santos, Pascale Saugier-Veber, Inge Schwersenz, Thomas Sejersen, Rasha El Sherif, Eduardo Tizzano, Isabela Tudorache, Sylvie Tuffery-Giraud, Jen Wang, Simon Woods, W. Ludo van der Pol, Peter Van den Bergh, and Petr Vondráček. We acknowledge funding provided to the national SMA registries, including: AFM Grant No. 16104, Jennifer Trust for Spinal Muscular Atrophy (2012), TREAT-NMD: EU FP6 contract number 036825 (2007 to 2011), TREAT-NMD Operating Grant: (2012), VUL 317/2007 (Bulgaria), German Ministry of Education and Research, MD-NET #01GM0302 (Germany), Italian Association of Patients with Neuromuscular Diseases (Italy), Neuromuscular Research Foundation Trust (New Zealand), Ministry of Science and Higher Education (641/N-TREAT/09/2010/0 and Ministry statutory grant to the Department of Neurology, Warsaw (Poland), KUKAS (Registry of Neuromuscular Disorders at Hacettepe) and Association Francais contre les Myopathies (AFM), Princes Beatrix Spierfonds and the Spieren voor Spieren Foundation (the Netherlands), Association de la Suisse Romande et Italienne contre les Myopathies (ASRIM), Fondation Suisse de Recherche sur les Maladies Musculaires (FSRMM) and Schweizerische Muskelgesellschaft (Switzerland), International Spinal Muscular Atrophy Patient Registry (Indiana University), which is supported by Families of SMA (USA), Mexican Social Security Institute (IMSS) and Instituto Jalisciense de Asistencia Social, Universidad de Guadalajara, Fundación Hospitales San Javier, The Rotary International, Fundacion Atrofia Muscular Espinal (FUNDAME Spain), 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.
Conflicts of interest
Professor Hanns Lochmuller was elected chair of the TREAT-NMD Alliance in April 2012 and is the previous chair of the oversight committee. Professor Lochmuller has a financial interest/arrangement with Pfizer, Ultragenyx and GlaxoSmithKline (Research grant investigator).
Ethical approval was in place for each of the national registries.