Neuromuscular Disorders
Volume 19, Issue 12 , Pages 860-866 , December 2009

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

  • Rachel Thompson

      Affiliations

    • TREAT-NMD, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
    • ,
  • Benedikt Schoser

      Affiliations

    • Department of Neurology, Friedrich-Baur Institute, University of Munich, Ziemssenstr. 1a, D-80336 Munich, Germany
    • ,
  • Darren G. Monckton

      Affiliations

    • Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK
    • ,
  • Karla Blonsky

      Affiliations

    • Marigold Foundation, 7515 Flint Road SE, Calgary, AB, Canada T2H 1G3
    • ,
  • Hanns Lochmüller

      Affiliations

    • TREAT-NMD, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 191 241 8602; fax: +44 191 241 8770.

References 

  1. van Engelen BGM, Eymard B, Wilcox D. 123rd ENMC International Workshop: Management and Therapy in Myotonic Dystrophy, 6–8 February 2004, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:389–394
  2. Sárközy A, Bushby K, Béroud C, Lochmüller H. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders, 25–27 January 2008, Naarden, The Netherlands. Neuromuscul Disord. 2008;18:997–1001
  3. Wheeler TM, Sobczak K, Lueck JD, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science. 2009;325:336–339
  4. Dalakas MC, Rakocevic G, Schmidt J, et al. Effect of Alemtuzumab (CAMPATH 1-H) in patients with inclusion body myositis. Brain. 2009;132:1536–1544
  5. http://www.urmc.rochester.edu/neurology/nih-registry/research/protocols.cfm [page accessed 31 July 2009].
  6. Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 2008;358:2688–2697
  7. Sansone V, Gandossini S, Cotelli M, Calabria M, Zanetti O, Meola G. Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Neurol Sci. 2007;28:9–15
  8. Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphael JC. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database Syst Rev. 2007;(3):CD001941
  9. Hill M, Hughes T, Milford C. Treatment for swallowing difficulties (dysphagia) in chronic muscle disease. Cochrane Database Syst Rev. 2007;(3):CD004303
  10. Sansone VA, Panzeri M, Montanari M et al. Italian validation of INQoL, a quality of life questionnaire for adults with neuromuscular disorders. J Neurol Neurosurg Psychiatry, submitted for publication.
  11. Musova Z, Mazanec R, Krepelova A, et al. Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. Am J Med Genet A. 2009;149A:1365–1374
  12. Kamsteeg EJ, Kress W, Catalli C et al. EMQN best practice guidelines and recommendations on myotonic dystrophy types 1 and 2, submitted for publication.
  13. Pearson CE, Edamura KN, Cleary JD. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet. 2005;6:729–742
  14. Bachinski LL, Czernuszewicz T, Ramagli LS, et al. Premutation allele pool in myotonic dystrophy type 2. Neurology. 2009;72:490–497

PII: S0960-8966(09)00590-2

doi: 10.1016/j.nmd.2009.08.009

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 860-866 , December 2009

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