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DEN SVÆRE DIAGNOSE

DEN SVÆRE DIAGNOSE. Hvem drejer (rehabilitering) sig om. Thromsø 2007. Progress in diagnostics and treatment in Neuromuscular Disorders. Description. Diagnostic criteria. Epidemiology. Gene-localisation. Gene-isolation. Variation of gene. Gene product. Prot. function. Animal models.

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DEN SVÆRE DIAGNOSE

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  1. DEN SVÆRE DIAGNOSE

  2. Hvem drejer (rehabilitering) sig om Thromsø 2007

  3. Progress in diagnostics and treatment in Neuromuscular Disorders Description Diagnostic criteria Epidemiology Gene-localisation Gene-isolation Variation of gene Gene product Prot. function Animal models Animal exp. Medical trials Cure Diagnosis: Duchenne/ Becker 1860 FSH 1885 LG (2D) 1980 Emery Dreifuss 1965 Myotonic dystrophy 1918 Pompe 1932 Centronucl. myopathy 1967 CMT (1a) 1886 SMA 1895 ALS 1862

  4. Enzym replacement terapyPompe disease OVERVIEW Cori GT. Harvey Lect. 1954;8:145-171. Engel AG. Brain. 1970;93:599-616. Hers HG. Biochem J. 1963;86:11-16. Hirschhorn R, et al. In: The Metabolic and Molecular Bases of Inherited Disease. 2001:3389-3420. Hudgson P, et al. Brain. 1968;91:435-462. Pompe JC. Ned Tijdschr Geneeskd. 1932;76:304-312. Reuser AJJ, et al. Eur J Pediatr. 2002;161:S106-S111. Stoeckle H, et al. Am J Cardiol. 1961;8:675-681.

  5. Genetherapy

  6. Engineering mini - genes

  7. Utrophin upregulation in DMD

  8. Oligonucleotide-mediated gene editing for neuromuscular disorders

  9. Bosnic DMD Family

  10. Holiday, Visiting a camp in the south of France, 2000 Participation Impairment Activity

  11. Does he have a good life (1994) Health service professionals: 80% no 18% don`t know 2% yes

  12. Does he have a good life Average population 50% no 30% don`t know 20% yes

  13. Does he have a good life The patients themselves 2% no 18% don`t know 80% yes

  14. He can use 2 fingers ...

  15. Prevalence trends in relation to the introduction of ventilator use in the DMD population, absolute numbers Denmark 1977-2001 From: Jeppesen J et al. Neuromuscular Disorders 2003;10: 804-812 Five processes forming a Creation of two Ventilator becomes DMD-ventilator policy respiratory centres a standard measure

  16. European Neuro Muscular Centre(ENMC) Aims: • To usefully and efficiently contribute to the eradication of neuromuscular diseases • To improve efficiency in European neuromuscular research • To facilitate and support research communication between European (and international) researchers and clinicians

  17. European Neuro Muscular Centre(ENMC) • First established in 1989 in Paris, France • Under the auspices of the AFM & EAMDA • Barataud & Emery & Poortman : the “winning ticket” • Independent from EAMDA since 1992 • Permanent Secretariat based in Baarn, NL • Virtual Centre, not a facility • Workshops in NH Hotel (Naarden, NL)

  18. Austria (OEMF) Denmark (MSFV) Germany (DGM) Italy (Italian Telethon) Associate member: Pending : The Netherlands (VSN, PBF) Switzerland (SSRM) United Kingdom (MDC) France (AFM), Spain (ASEM) Slovenia (to be approved) Russia ENMC Members

  19. ENMC ORGANIZATION EXECUTIVE COMMITTEE Patient organizations (7 voting members) Chairman : Wolfgang SAMESCH, Austria (Jes RAHBEK Danmark ) RESEARCH COMMITTEE 11 elected members Chair: Prof. K. Bushby, United Kingdom (Prof.John VISSING Danmark)

  20. Research Committee (Jan. 2007) • Prof. Bushby, UK – CHAIR • Prof. Jaques Beckmann, Switzerland • Prof. Enrico Bertini, Italy • Prof. Reginald Bittner, Austria • Prof. Kate Bushby, United Kingdom (Chair) • Prof. Baziel van Engelen, The Netherlands • Dr. Pascale Guicheney, France • Prof. Isabel Illa, Spain • Dr. Thierry Kuntzer, Switzerland • Prof. Hanns Lochmueller, Germany • Dr. Michael Rose, UK • Dr. John Vissing, Denmark • Honorary Members : Fardeau, Dubowitz, Nigro, Rüdel, Emery, Urtizberea, Hughes

  21. Topics of Workshops (1990 - 2006)Total of 147 Workshops • Spinal Muscular Atrophy 15 • Duchenne Muscular Dystrophy 15 • Congenital Muscular Dystrophies 11 • Charcot-Marie-Tooth disease 8 • Emery-Dreifuss Muscular Dystrophy 7 • Mitochondrial diseases 8 • Nemaline Myopathy 6

  22. Participations in Workshops 1997-2006

  23. Number of ENMC Workshops 1990 - 2006

  24. Professional backgrounds Workshop participants 2006

  25. Workshop participations by country of origin (2006) • United Kingdom 28 % • France 14 % • Germany 13 % • Italy 8 % • Netherlands 8 % • USA 8 % 30 countries represented overall in 17 years

  26. Results of ENMC 1990-2006 • Collaborative Workshops 147 • Consortia 18 • Participants 2523 • Publications 209

  27. DISSEMINATION OF KNOWLEDGE books, workshop reports, scientific papers, website, presentation and posters at international meetings

  28. Beyond presentations… …much interaction, interactivity, and socialization… …leading to more collaboration

  29. ENMC Initial Policy • Collaborative workshops +++ • Top priority : genetic studies • Diagnostic criteria, consortia, DNA banking • Collaborative research projects >>> gene identification • Epidemiological studies • Establishment of Expert Centers in NMD

  30. ENMC Trial Network (I) Aim: To facilitate and support relevant, European multi-centre clinical trials on neuromuscular diseases making use of the existing ENMC prestige, ENMC network and ENMC facilities Launched by Prof. A. Urtizberea (2001) Continued and structured by Prof. R. Hughes (from 2003)

  31. ENMC Trial Network II • 38 titles for systematical reviews (Cochrane) • 35 publications of protocols • 40 publications of reviews • Identification of 6 key trials • 6 Initial Trial Workshops • Identification of 13 second priority trials • Assess possibilities for disease register • Trial development training courses • Identification of potential treatments through basic scientists

  32. Next ChallengesforENMC • Multi-centre clinical trials • Uniform outcome measurements, patients registries, funding • Better networking with other centres • Muscular Dystrophy Association (USA) • Asian Oceanian Myology Center • Integration of Eastern European countries • and more generally, developing/emerging countries • Secure funding (including through E.U. projects) • ………

  33. HISTORY 2007 FUTURE ENMC as Integrated Platform for Communication Traditional ENMC Activities Assistance in Formation of new Consortia • Traditional ENMC activities • Workshops: • Diagnostic Criteria • Fundamental Research • Clinical Research • Trials • Website/Dissemination of Information TREAT-NMD Partnership Review / Focus Priority Diseases Pseudomised Database Funding Resources Counseling Communication non EU Countries

  34. Previous input and directions • New directions for the ENMC, December 2005, Prof. K. Bushby • Clinical trials and research arms of ENMC activities combined will allow for new possibilities to be developed. • Extension of ENMC activities beyond core program of workshops

  35. Previous input and directions – cont’d • Invite participation in EC from disease specific charities with overlapping interests. • Closer links with patient organisations • Identify and foster key areas of promise of advance in NMD research, with applications for workshop funding • Promotion of areas for translational research

  36. RehabiliteringsCenter for Muskelsvind Brickless 22-25 Oktober 2008 jera@rcfm.dk

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