Journal of Neurology

, Volume 261, Issue 1, pp 152–163 | Cite as

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

  • Catherine L. Bladen
  • Rachel Thompson
  • Jacqueline M. Jackson
  • Connie Garland
  • Claire Wegel
  • Anna Ambrosini
  • Paolo Pisano
  • Maggie C. Walter
  • Olivia Schreiber
  • Anna Lusakowska
  • Maria Jedrzejowska
  • Anna Kostera-Pruszczyk
  • Ludo van der Pol
  • Renske I. Wadman
  • Ole Gredal
  • Ayse Karaduman
  • Haluk Topaloglu
  • Oznur Yilmaz
  • Vitaliy Matyushenko
  • Vedrana Milic Rasic
  • Ana Kosac
  • Veronika Karcagi
  • Marta Garami
  • Agnes Herczegfalvi
  • Soledad Monges
  • Angelica Moresco
  • Lilien Chertkoff
  • Teodora Chamova
  • Velina Guergueltcheva
  • Niculina Butoianu
  • Dana Craiu
  • Lawrence Korngut
  • Craig Campbell
  • Jana Haberlova
  • Jana Strenkova
  • Moises Alejandro
  • Alatorre Jimenez
  • Genaro Gabriel Ortiz
  • Gracia Viviana Gonzalez Enriquez
  • Miriam Rodrigues
  • Richard Roxburgh
  • Hugh Dawkins
  • Leanne Youngs
  • Jaana Lahdetie
  • Natalija Angelkova
  • Pascal Saugier-Veber
  • Jean-Marie Cuisset
  • Clemens Bloetzer
  • Pierre-Yves Jeannet
  • Andrea Klein
  • Andres Nascimento
  • Eduardo Tizzano
  • David Salgado
  • Eugenio Mercuri
  • Thomas Sejersen
  • Jan Kirschner
  • Karen Rafferty
  • Volker Straub
  • Kate Bushby
  • Jan Verschuuren
  • Christophe Beroud
  • Hanns Lochmüller
Original Communication

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.

Keywords

Spinal muscular atrophy Rare disease Disease registries TREAT-NMD 

Supplementary material

415_2013_7154_MOESM1_ESM.docx (27 kb)
Supplementary material 1 (DOCX 27 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Catherine L. Bladen
    • 1
  • Rachel Thompson
    • 1
  • Jacqueline M. Jackson
    • 2
  • Connie Garland
    • 2
  • Claire Wegel
    • 2
  • Anna Ambrosini
    • 3
  • Paolo Pisano
    • 3
  • Maggie C. Walter
    • 4
  • Olivia Schreiber
    • 4
  • Anna Lusakowska
    • 5
  • Maria Jedrzejowska
    • 37
  • Anna Kostera-Pruszczyk
    • 5
  • Ludo van der Pol
    • 6
  • Renske I. Wadman
    • 6
  • Ole Gredal
    • 7
  • Ayse Karaduman
    • 8
  • Haluk Topaloglu
    • 8
  • Oznur Yilmaz
    • 8
  • Vitaliy Matyushenko
    • 9
  • Vedrana Milic Rasic
    • 10
    • 11
  • Ana Kosac
    • 10
  • Veronika Karcagi
    • 12
  • Marta Garami
    • 12
  • Agnes Herczegfalvi
    • 12
  • Soledad Monges
    • 13
  • Angelica Moresco
    • 13
  • Lilien Chertkoff
    • 13
  • Teodora Chamova
    • 14
  • Velina Guergueltcheva
    • 14
  • Niculina Butoianu
    • 15
  • Dana Craiu
    • 15
  • Lawrence Korngut
    • 16
  • Craig Campbell
    • 17
  • Jana Haberlova
    • 18
  • Jana Strenkova
    • 19
  • Moises Alejandro
    • 20
  • Alatorre Jimenez
    • 21
  • Genaro Gabriel Ortiz
    • 20
  • Gracia Viviana Gonzalez Enriquez
    • 20
  • Miriam Rodrigues
    • 21
  • Richard Roxburgh
    • 21
  • Hugh Dawkins
    • 22
  • Leanne Youngs
    • 22
  • Jaana Lahdetie
    • 23
  • Natalija Angelkova
    • 24
  • Pascal Saugier-Veber
    • 25
  • Jean-Marie Cuisset
    • 25
  • Clemens Bloetzer
    • 26
  • Pierre-Yves Jeannet
    • 26
  • Andrea Klein
    • 27
  • Andres Nascimento
    • 28
  • Eduardo Tizzano
    • 29
  • David Salgado
    • 30
    • 31
  • Eugenio Mercuri
    • 33
  • Thomas Sejersen
    • 34
  • Jan Kirschner
    • 35
  • Karen Rafferty
    • 1
  • Volker Straub
    • 1
  • Kate Bushby
    • 1
  • Jan Verschuuren
    • 36
  • Christophe Beroud
    • 30
    • 32
  • Hanns Lochmüller
    • 1
  1. 1.MRC Centre for Neuromuscular Diseases at NewcastleInstitute of Genetic MedicineNewcastle upon TyneUK
  2. 2.Indiana University School of MedicineIndianapolisUSA
  3. 3.Associazione Italiana dei pazienti con malattie neuromuscolari/Fondazione Telethon-Piazza Cavour 1MilanItaly
  4. 4.Department of Neurology, Friedrich-Baur-InstituteLudwig-Maximilians-University of MunichMunichGermany
  5. 5.Department of NeurologyMedical University of WarsawWarsawPoland
  6. 6.Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Brain Center Rudolf MagnusUniversity Medical Center UtrechtUtrechtThe Netherlands
  7. 7.The Rehabilitation Centre for Neuromuscular DiseasesÅrhus CDenmark
  8. 8.Department of Physiotherapy and Rehabilitation HacettepeUniversity Faculty of Health SciencesAnkaraTurkey
  9. 9.Foundation for Children with Spinal Muscular AtrophyKharkivUkraine
  10. 10.Clinic for Neurology and Psychiatry for Children and YouthBelgradeSerbia
  11. 11.Faculty of MedicineUniversity of BelgradeBelgradeSerbia
  12. 12.Molecular Genetic DepartmentNIEHBudapestHungary
  13. 13.Pichincha 1881, Hospital Pediatría J. P. GarrahanBuenos AiresArgentina
  14. 14.Department of NeurologyMedical University-SofiaSofiaBulgaria
  15. 15.Pediatric Neurology DepartmentHospital Al. ObregiaBucharestRomania
  16. 16.University of CalgaryCalgaryCanada
  17. 17.Shulich School of Medicine and London Health Sciences CentreWestern UniversityLondonCanada
  18. 18.University Hospital in MotolPrague 5Czech Republic
  19. 19.Institute of Biostatistics and AnalysisMasaryk UniversityBrnoCzech Republic
  20. 20.Asociación Mexicana de Atrofia Muscular Espinal Guadalajara, Jalisco México and CUCSUniversidad de GuadalajaraGuadalajaraMexico
  21. 21.Department of NeurologyAuckland City HospitalAucklandNew Zealand
  22. 22.Department of HealthOffice of Population Health GenomicsPerthAustralia
  23. 23.Turku University Central HospitalTurkuFinland
  24. 24.Department of Child NeurologyUniversity Hospital for Children DiseaseSkopjeMacedonia
  25. 25.Laboratoire de génétique moléculaireService de génétique, Faculté de médecine et de pharmacie de RouenRouenFrance
  26. 26.Paediatric Neurology and Neurorehabilitation Unit, Département médicochirurgical de pédiatrie - DMCPUniversity Hospital of LausanneLausanneSwitzerland
  27. 27.Department of Paediatric NeurologyUniversity Children’s HospitalZurichSwitzerland
  28. 28.Hospital Sant Joan de DeuBarcelonaSpain
  29. 29.Hospital de Sant Pau and CIBERER, U-705BarcelonaSpain
  30. 30.INSERM UMR_S910Aix-Marseille Université Faculté de Médecine La TimoneMarseille Cedex 05France
  31. 31.Australian Regenerative Medicine InstituteEMBL-Australia, Monash UniversityMelbourneAustralia
  32. 32.AP-HM, Département de Génétique MédicaleHôpital d¹enfantsMarseilleFrance
  33. 33.Pediatric Neurology UnitCatholic UniversityRomeItaly
  34. 34.Karolinska InstitutetStockholmSweden
  35. 35.Department of Paediatric Neurology and Muscle DisordersUniversity Medical CentreFreiburgGermany
  36. 36.Department of NeurologyLeiden University Medical CentreLeidenThe Netherlands
  37. 37.Neuromuscular UnitMossakowski Medical Research Centre, Polish Academy of SciencesWarsawPoland

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