Speaker presentations | ECRD 2014 : The European Conference on Rare Diseases & Orphan ProductsSpeaker presentations

Speaker presentations | ECRD 2014 : The European Conference on Rare Diseases & Orphan ProductsSpeaker presentations

CONFERENCIA EUROPEA SOBRE ENFERMEDADES RARAS Y PRODUCTOS HUÉRFANOS

Un evento imprescindible para el colectivo de enfermedades raras No pierdas la oportunidad de descargar las presentaciones de los ponentes, disponibles online y en la aplicación para móviles  Speaker presentations Opening Session Rare diseases: Research collaborations in Europe and beyond, Irene Norstedt Plenary Session ECRD 2014 Prezi: Rare diseases – an ever evolving landscape EU Action on Rare Diseases, John F. Ryan THEME 1 : Improving Healthcare Services 0101 - Centres of Expertise – Part 1 (Models & Practical Examples) Best Practices (example 1) − Specialised centre for epidermolysis bullosa (EB), Leena Bruckner-Tuderman Best Practices (example 2) − Perspective of a Centre of Expertise with a broader remit than one rare disease, Pierre Sarda 0102 – Centres of expertise – Part 2 (Designation and Evaluation) Opening Remarks: Centres of expertise – Part 2 (Designation & Evaluation), Enrique Terol, Session Chair Evaluation of Centres: The French experience since 2009, Sabine Sarnacki Quality Criteria; Outcome Measures, Edmund Jessop Designation Process: How centres are selected; how to evaluate centres for rare diseases; how they plan to evaluate in the future, Enrique Terol 0103 - European Reference Networks (ERNS) Opening Remarks: European Reference Networks (ERNS), Till Voigtländer, Session Chair Observatory Study – Building European Reference Networks in healthcare, Willy Palm European Commission Report: European Reference Networks, Enrique Terol Past models such as TREAT-Neuromuscular Network (NMD): how this will change moving forward and the funding challenges, Kate Bushby 0104 - Addressing the Challenges of Healthcare Pathways The Organisation of Healthcare Pathways around the Centres of Expertise: The French model, Sabine Sarnacki  0105 - Advances in Diagnostic Possibilities for Undiagnosed Patients Sequencing: The Netherlands example, Tjitske Kleefstra FindZebra − What is currently available as computerised systems for diagnosis, what are their benefits and their limits, Ole Winther 0106 - Improving the Quality of and Access to Diagnostic Services How to Apply Next Generation Sequencing in Clinical Diagnostics: Challenges, guidelines and indications, Peter Bauer Ensuring Rapid Translation of Science to Services while Ensuring Quality and Affordability − Organisation of exome sequencing, an example from Belgium, Gert Matthijs Challenges of Central and Eastern European Health Care Systems:Balancing the role of state and private sectors, Milan Macek THEME 2 : Knowledge Generation & Dissemination 0201 - The Role, Risks and Relevance of Registries in Shaping Therapy Development to 2020 Landscape of Disease Registries in Europe and Challenges at Country Level, Elfriede Swinnen Industry Perspective: Advantages and disadvantages of disease registries vs. drug registries, Daniel Rosenberg  Registry collaboration beyond Industry, Tarekegn Hiwot Shire Position on Registries, Micheline Wille 0202 - A Collaborative Model to Progress Knowledge and Research Ispra Platform of Services for Rare Disease Registries, Ciaran Nicholl National Rare Disease Registries: Overview from France, Rémy Choquet National Rare Disease Registries: Overview from Spain, Manuel Posada National Rare Disease Registries: Overview from Germany, Frank Ückert 0203 – Making the Invisible Visible: the Coding of Rare Diseases in Health Information Systems French and German Agencies’ Experience of Coding Rare Diseases with Orpha Codes in Hospital, Stefanie Weber Forecast for Having Rare Disease Codes in ICD11 and SNOMED-CT, Ana Rath Harmonisation of Coding Systems to Describe Disease Expression and International Efforts,Peter Robinson 0204 – Delivering Help and Support in a Virtual World: What will work best? The Challenges for Help Lines, the 116 Number and Why We Are Advocating It, Dorica Dan The Importance of Help Lines in National Plans, Monica Mazzucato Results of the Caller Profile Analysis, Georgi Iskrov 0205 - Knowledge at the Point of Care: Getting the facts just in time or just in case Overview of RARE-Best Practices EU Project, Domenica Taruscio Emergency Guidelines and Emergency Cards – Practical experience for clinician and patient, Ana Rath Saturday Night at a University Hospital – How to handle a patient with a rare disease, Tino Münster 0206 - Hype, Help or Harm? The Impact of Media Promotion of Rare Diseases Benefits and pitfalls of mainstream media coverage of rarediseases, Rinke van den Brink Why a European Year of Rare Diseases 2019? What it brings to the table, Avril Daly THEME 3 : Research from Discovery to Patients 0301 - Shaping Rare Disease Research Policy  EU Horizon 2020: Focus on Research, Irene Norstedt International Rare Diseases Research Consortium (IRDiRC), State of the Art, Paul Lasko Addressing the needs of the rare disease research community:The E-Rare perspective, Daria Julkowska 0302 - Addressing the Gaps in Research at International Level to Identify Opportunities Facilitating the Diagnosis of Most Rare Diseases by 2020: IRDiRC’s path forward, Kym Boycott Unlocking the Potential toward 200 New Rare Disease Therapies by 2020, Yann Le Cam Infrastructural requirements for Rare Disease Research within IRDiRC, Hanns Lochmüller 0303 - Incentives to Create a Favourable Eco-System Opening Remarks: Incentives to Create a Favourable Eco-System, Serge Braun, Session Chair  An Innovative Model for Early Stage Rare Disease Therapy Financing and Development, Erik Tambuyzer Care for Rare, Kym Boycott Public-Private Initiative to Generate Diagnostic and Therapeutic Solutions, Virginie Miath 0304 – Breakthroughs in Science An Overview on the Status of Stem Cells in Therapy / Stem Cell Research Breakthroughs, Christine Mummery Use of Animal Models for Exome Prioritisation of Rare Disease Genes, Damian Smedley 0305 - Pre-Competitive Tools and Resources / Public-Private Partnership in the Area of Rare Diseases (including Innovative Medicines Initiative) Opening remarks: Pre-competitive tools and resources/ Public-Private partnership in the area of rare diseases, Nathalie Seigneuret, Session Chair Supporting the Drug Development Pathway for Rare Diseases – The experience of the-Neuromuscular Network (NMD) advisory committee for therapeutics (TACT), Kate Bushby European Bioinformatics Institute (EBI) Initiative, Justin Paschall The Experience of a Charity in Translating the Results of Basic Research to Therapies for Patients, Lucia Monaco 0306 - Whose Data is it? Stimulating Research and Removing Barriers Stimulating Research and Monitoring Patients, Phil Beales The EU Data Protection Law Reform and Scientific Research: What’s new? Gauthier Chassang THEME 4 : State of the Art and Innovative Practices in Orphan Products 0401 – Current Landscape of Policy Development on Orphan Products and Rare Disease Therapies Current Landscape − Overview by European Medicines Agency, Stiina Aarum State of Play from the US Perspective, Debra Lewis Development of International Orphan Drug Policies, Emmanuelle Lecomte-Brisset 0402 - Facts on Current Patient Access Challenges to Orphan Products Cost Containment Measures for Medicines in the European Economic Crisis, François Houÿez 0403 - EMA-Health Technology Assessment (HTA) interfacing on Rare Disease Therapies Experience to date on interfacing in rare diseases, status with protocol assistance and where are we going – future directions, Spiros Vamvakas Experience of the Parallel European Medicines Agency (EMA) Health Technology Assessment-(HTA) Scientific Advice (SA) from an Orphan Disease Point of View, Samuel Rigourd 0404 – Shortages in Authorised Medicines for Rare Diseases Experience with Fabry Shortage, Carla Hollak Regulatory Perspective, Brendan Cuddy Genzyme, a Sanofi Company – How a company should/could respond, Carlo Incerti Supply Shortages of Medicines in Europe, François Houÿez 0405 – Understanding of Orphan Therapies Off-Label Uses and their New Challenges Challenges Associated with Healthcare System: Reimbursement, Yves Juillet Off-label Use: Good and bad practices, Marc Dooms National Institute of Health (NIH) Guidelines that Include Offlabel Use, Greet Musch 0406 - Empowering Patient Advocates in Drug Development Education & Training Initiatives in Drug Development for Patients, Maria Mavris Understanding and Using Health Technology Assessment to Make a Case for Better Patient Care, Elena Nicod A «How-to» Guide to Help Patient Groups Drive the Drug Development Process, Tony Hall THEME 5 : Emerging Concepts & Future Policies for Rare Disease Therapies 0501 - Early Dialogue and Horizon Scanning of Product Development to Address Unmet Medical Needs Early Dialogues / Scientific Advice in European Collaborative projects, François Meyer 0502 - How to Share a Better Framework for Orphan Drug Development: EMA/FDA Collaboration “How to Shape a Better Framework for Orphan Drug Development: EMA/FDA Collaboration”, Jordi Llinares Garcia and Debra Lewis How Trans-Atlantic Collaboration can Speed up Efficient Drug Development: The Cystic Fibrosis (CF) Clinical Trial Networks, Kris De Boeck  Case Study: Duchene Muscular Dystrophy, Elizabeth Vroom  Treatment Preferences and Risk Tolerance Study,  Pat Furlong EMA-HTA Interfacing on Rare Disease Therapies, Spiros Vamvakas 0503 - Progressive Patient Access Schemes and Patient Involvement in Benefit-Risk Assessment  Are we ready? What is missing and what is needed? A regulator’s perspective, Luca Pani Patient View on Progressive Patient Access Schemes, Pauline Evers ataluren in nmDMD: A Case Study NCE, First in new class, pioneer in DMD, Mark Rothera 0504 - Mechanism of Coordinated Access (MOCA) and Transparent Value Framework, Managed Entry Agreements Concepts & MOCA Pilots (feedback from the process around the first pilots), Wills Hughes-Wilson  Managed Entry Agreements, Luca Pani 0505 - Emerging Ideas for Sustainable Access to Orphan Medicinal Products Differential Pricing – A way to demonstrate social solidarity to alleviate the impact of the financial crisis, Flaminia Macchia 0506 - Rare Disease Treatments Beyond Medicinal Products Opening remarks: Rare Disease Treatments Beyond Medicinal Products, Lesley Greene THEME 6 : Beyond Medical Care 0601 - Idenitifying Specific Social Challenges of Rare Diseases Current Challenges and Issues, Dorica Dan How National Plans can Address These Issues, Simona Bellagambi Case Study: The experience of France, Christel Nourissier 0602 - Different Approaches to the social Challenges of Rare Diseases: Social Policy Orphanet Disability Projects, Myriam de Chalendar Social Profiles Project by Rare Diseases Denmark, Birthe Holm Online Platform for Patients to Share Innovative Solutions/Discoveries, Pedro Oliveira 0603 - Concrete Solutions to Social Challenges: Essential Tools for the Integration of Rare Siseases into Social Services Guiding Principles for Specialised Social Services and Guidelines for the Training of Social Service Providers, Dorica Dan Ågrenska, Anders Olauson 0604 - Can People Living with a Rare Disease be Independent? Inspiring Personal Stories The Balance between Needing Care and Living Independently for a Young Man with a Degenerative Rare Disease, Hanka Meutgeert Let to Fly − Independent life camps for rare disease youths with intellectual disabilities, Beata Boncz and Krisztina Pogany 0605 - Can People Living with a Rare Disease be Independent? Inspiring Solutions by Providers Online Psychological Support for people living with a rare disease, Alba Ancochea Ristoro Fantasia – Creating employment for people living with a rare disease, Renza Barbon Galluppi Empowerment Weekends for Young Adults with Anorectal Malformations, Annette Lemli 0606 - How Centres of Expertise Should/Could Interface with Social Services The Proposed Role of Centres of Expertise Based on European Union Committee of Experts on Rare Diseases (EUCERD) Recommendations, Kate Bushby Case Study: The experience of France, Christel Nourissier