neuromuscular disease - Институт по редки...
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Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases” 13-14 June 2009 - Plovdiv, Bulgaria In collaboration with neuromuscular disease neuromuscular disease Ysbrand Poortman Founder/ board member VSN, Dutch Association for NeuroMuscular Diseases EAMDA, Eur. Alliance Neuromuscular Disease Associations ENMC, Eur. NeuroMuscular Center for stim. & coord. of research EPPOSI,Eur. Platform Patient Organisations, Science & Industry Vice president WANDA, World Alliance Neuromuscular Disorder Associations
Transcript of neuromuscular disease - Институт по редки...
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular diseaseYsbrand Poortman
Founder/ board memberVSN, Dutch Association for NeuroMuscular Diseases EAMDA, Eur. Alliance Neuromuscular Disease Associations
ENMC, Eur. NeuroMuscular Center for stim. & coord. of researchEPPOSI,Eur. Platform Patient Organisations, Science & Industry
Vice president WANDA, World Alliance Neuromuscular Disorder Associations
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Holland
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular diseasecontent:characteristicsimpact of diseasehealthcare services
models counteractions - disability manus robot arm- social field AFM-telethon- medico scientific field
european neuromuscular center (ENMC) “Patients’ Roadmap to Treatment”
contributions to medicine developmentnear future
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular disease
Main characteristics
• paralysing due to mal functioning of cellsin spinal cord, muscle cells or conjunction
• progressive, often life-threatening• most are genetic (all patterns) and rare•no cures (?), • complex management to counteract implications of disease
– physio therapy, orthopedic / surgical, treatment– transportation, accomodation
More than 600 different neuromuscular diseases
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular diseaseMain characteristicsLocation defect:* spinal cord
– spinal muscular atrophy– (post) polio poly neuropathies– poly neuropathies
• muscle– Duchenne muscular dystrophy– Becker muscular dystrophy– facio scapulo humeral muscular dystrophy– metabolic muscular dystrophies (glycogen storage diseases; pompe)
• conjunction muscle & nerve– myasthenia gravis
Freqency/prevalence NMD: one in 150
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
PATIENT / FAMILY
HANDICAPSOCIAL LEVEL
Arch.barriers, employment integration
Physical & economical dependence
Social research
DISABILITIESPERSONAL LEVEL
Adaptations / ADL; techn. aids
Financial budget
Relatively able
Technical research
DISEASE / IMPAIRMENTSMEDICO SCIENTIFIC LEVEL
Paralysis, respiratory & physiother.care orthopedic & surgical treatment
Profound disability
Health research
neuromuscular diseaseneuromuscular disease burden of NMDburden of NMD
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular diseaseHealthcare services:
Diagnosis: timely, accurate, multi disc. teamwork data & DNA/tissue recorded
Follow up: genetic counselingtimely, free & well informed choices
referral to - specialised/experienced centres for treatment/rehabilitation- long term plan for living with nmd
housing, availability/daily care, recreation- national association for neuromuscular diseases
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Government Science
Industry
Finance
healthcare
Patients
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Research & DevelopmentResearch & Development
Government
Science Industry
Finance
DiagnosticaTherapeuticaQOL products
Patients
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
ModelModelPartnershipPartnership
Science
Industry
Clinician
Patient
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
neuromuscular diseaseneuromuscular disease
ExampleContribution to independancyMANUS robot arm
Sharing Best PracticesSharing Best Practices
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
AssociationAssociationFrançaiseFrançaise contre lescontre les
MyopathiesMyopathiesfounded in 1958founded in 1958
Telethon since 1987, 100 M€ / y
R & DSocial missions
Fund raising
Admin. costs
64 M €38 M €
12 M € 9 M €
Budget 2008: €125 M
Model: France
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Sharing Best PracticesSharing Best Practices neuromuscular diseaseneuromuscular disease
European Neuro Muscular Centre (ENMC)
Aims:• to 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
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Sharing Best PracticesSharing Best Practices neuromuscular diseaseneuromuscular disease
Collaborative WorkshopsCollaborative Workshops 165165
ParticipantsParticipants 22002200
ConsortiaConsortia 18 18
PublicationsPublications 210 210
Intern. agreed diagnostic criteriaIntern. agreed diagnostic criteria 22 DMDs 22 DMDs
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Sharing Best PracticesSharing Best Practices neuromuscular diseaseneuromuscular disease
Epidemiological studies Epidemiological studies prevalence/incidenceprevalence/incidencetransitiontransition
A clearing-house for clinical trials-studiesA clearing-house for clinical trials-studies
EU-projectsEU-projectsmitochondria myopathiesmitochondria myopathiesTREAT-nmdTREAT-nmd
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
ENMC ORGANIZATIONENMC ORGANIZATION
EXECUTIVE COMMITTEEEXECUTIVE COMMITTEEPatient organizations (8 voting members)Patient organizations (8 voting members)in charge of management, policy, promotion, in charge of management, policy, promotion, implementation of outcomeimplementation of outcome
RESEARCH COMMITTEERESEARCH COMMITTEE11 elected members11 elected membersin charge of all sciencein charge of all science
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Professional backgrounds Workshops participants 2004
Paediatrics16%
Others11%
Neurology33%
Basic sciences27%
Pathology4%
Genetics9%
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
DISSEMINATION OF KNOWLEDGEDISSEMINATION OF KNOWLEDGEbooks, workshop reports, scientific papers, website, presentation and posters at international meetings
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Beyond presentations…Beyond presentations…
…much interaction, interactivity,
and socialization…
…leading to more collaboration
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
A few group picturesA few group pictures
Minocycline in ALS Inducing Hypertrophy
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Multi-centre clinical trialsMulti-centre clinical trials Uniform outcome measurements, patients registries, fundingUniform outcome measurements, patients registries, funding
Better Better networkingnetworking with other centres with other centres Muscular Dystrophy Association (USA)Muscular Dystrophy Association (USA) Asian Oceanian Myology CenterAsian Oceanian Myology Center
Integration of Eastern European countriesIntegration of Eastern European countries and developing/emerging countriesand developing/emerging countries
Secure funding (including thrSecure funding (including throughough the E.U.) the E.U.)
European NeuroMuscular Center
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
WANDAWANDA
“seeks a world in which neuromuscular disorders are understood and eradicated and in which the people affected are well supported”.
Quadrennial assembly, 50 national NMD-ass.Support emerging/new associations
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Objective 4:Objective 4:
“to facilitate swift dissemination of information on treatment and research findings”
Warnings for fake treatments:
myoblast transfer, stemcell therapy in China
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Sharing Best PracticesSharing Best Practicesneuromuscular diseaseneuromuscular disease• WANDA• Istanbul 2006• Patients roadmap to treatment
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Pathways leading to therapy (1986) Pathways leading to therapy (1986) (2006)(2006)
• Internationally recognised uniform/consistent diagnostic criteriaEarly detection, diagnostics (an alert primary healthcare)
• Multi disciplinary networks of expert centres• Uniform/consistent
– longitudinal registration of patient data (how to set up a registry)– banking of patient material (DNA, tissue &)(how to set up a biobank)
• Understanding of pathogenesis• Gene localisation, identification, gene products• Availability of animal models• Pharmacological research; trials, phase 1, 2, 3 (???)• Encouraging regulatory system
– designation, authorisation, reimbursement• Patient organisations as
lobbyists, fighters in media & political arena, entrepreneurs!
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
PATIENT/PARENT ORGS
HelplessnessEmancipationManagementDrivers of healthcarePartners in medicine developm.
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Trends in healthcareTrends in healthcare
– 1960 Ignorance 1960 – 1970 Uncertainty 1970 – 1980 Diagnosis 1980 – 1990 Quality of life 1990 – 2000 Management
2000 – 2010 Prevention, testing/screening 2010 - Timely & well informed decisionmaking
re own health & off spring Personalised healthcare
From disease management to health maintenance
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
From disease management…From disease management…to health maintenance
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Pompe’s diseasePompe’s diseasePractice
Fourth Eastern European Conference for Rare Diseases and Orphan Drugs “Together for Integrative Approach to Rare Diseases”
13-14 June 2009 - Plovdiv, Bulgaria
In collaboration with
Increasing opportunities for Increasing opportunities for innovative drug development innovative drug development
Urgent need forUrgent need forearly detection & fast prescription of medicinesearly detection & fast prescription of medicines
Benthe (received medication at age 2 weeks)
Lucas (received medicationat age 9 months)
