Dias nummer 1

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DEN SVÆRE DIAGNOSE
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Hvem drejer (rehabilitering) sig om
Thromsø 2007
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Enzym replacement terapyPompe disease
OVERVIEW
Cori GT. Harvey Lect. 19548145-171. Engel AG.
Brain. 197093599-616. Hers HG. Biochem J.
19638611-16. Hirschhorn R, et al. In The
Metabolic and Molecular Bases of Inherited
Disease. 20013389-3420. Hudgson P, et al.
Brain. 196891435-462. Pompe JC. Ned Tijdschr
Geneeskd. 193276304-312. Reuser AJJ, et al.
Eur J Pediatr. 2002161S106-S111. Stoeckle H,
et al. Am J Cardiol. 19618675-681.
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Genetherapy
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Engineering mini - genes
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Utrophin upregulation in DMD
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Oligonucleotide-mediated gene editing for
neuromuscular disorders
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Bosnic DMD Family
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Holiday, Visiting a camp in the south of France,
2000
Participation
Activity
Impairment
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Does he have a good life (1994)
Health service professionals 80 no
18 dont know 2 yes
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Does he have a good life Average population
50 no 30 dont know
20 yes
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Does he have a good life The patients themselves
2 no 18 dont know
80 yes
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He can use 2 fingers ...
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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
200310 804-812
Five processes forming a Creation of two
Ventilator becomes DMD-ventilator
policy respiratory centres a standard
measure
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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

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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)

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ENMC Members

• 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

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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)
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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

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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

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Participations in Workshops 1997-2006
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Number of ENMC Workshops 1990 - 2006
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Professional backgrounds Workshop participants
2006
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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

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Results of ENMC 1990-2006

• Collaborative Workshops 147
• Consortia 18
• Participants 2523
• Publications 209

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DISSEMINATION OF KNOWLEDGE books, workshop
reports, scientific papers, website, presentation
and posters at international meetings
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Beyond presentations
much interaction, interactivity, and
socialization leading to more collaboration
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ENMC Initial Policy

• Collaborative workshops
• Top priority genetic studies
• Diagnostic criteria, consortia, DNA banking
• Collaborative research projects gtgtgt gene
  identification
• Epidemiological studies
• Establishment of Expert Centers in NMD

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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)

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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

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Next Challenges for ENMC

• 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)

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2007
HISTORY
FUTURE
ENMC as Integrated Platform for Communication
Assistance in Formation of new Consortia

Traditional ENMC Activities

• 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
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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

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Previous input and directions contd

• 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

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RehabiliteringsCenter for Muskelsvind

• Brickless
• 22-25 Oktober 2008
• jera_at_rcfm.dk