Poster

Es ist nicht mehr möglich, ein Poster für ECRD 2018 einzureichen.
Kontakt für Poster:
Alice Williams ([email protected]), Veranstaltungen und Kommunikationsteam, EURORDIS

Posterthemen

Die nachfolgend beschriebenen Themen dienen als Inspiration zu Fragen und Thematiken, welche der Posterausschuss angesprochen sehen möchte. Sie sollten Ihnen beim Entwurf Ihrer Posterzusammenfassungen als nützliche Richtlinie diesen.

Thema 1: Strukturierung der Forschungs- und Diagnoselandschaft

Berichtet darüber, wie Forschung den Diagnoseansatz ändert; über Wege, wie Patienten im Bereich Forschung geschult, ausgebildet und bestärkt werden; gibt Beispiele bioethischer Forschung zu den Auswirkungen der Genom-Medizin; Beispiele der gemeinsamen Gestaltung zwischen Patienten, Akademikern und Vertretern der Industrie; zeigt innovative Modelle für Patientenbeteiligung an Forschung & Forschungsförderung.


P1– Engaging patients with rare diseases in research to improve their care, Christina Honeywell et al.

P2– Alkaptonuria: a far much complex disease than thought so far, Annalisa Santucci et al. 
P3– Research biobanking as a training ground for collaborative research and systemic engagement. The key experience of the BBMRI.it ELSI working groups, Sara Casati
P4– Developing the roadmap for collaboration between patients and researchers about genome ELSI on clinical research and policy, Shun Emoto
P5– An integrated interactive ecosystem for alkaptonuria a tool for physicians and researchers
P6- Fibrodysplasia Ossificans Progressiva: New developments in the Netherlands, Elisabeth Eekhoff et al.
P8– BH4-response prediction in PKU patients in Georgia
P9– Diagnosis of genetic diseases in developing countries: is it possible to work by the guidelines? DYT1 dystonia in a Romanian patient. Case study, Blaga Ioana Cristina et al.
P10- Evaluating clinical exome sequencing for the benefit of the management of patients with rare diseases (SIGNAL), Dr Rachel Butler et al.
P11-RD-Connect: an integrated infrastructure for data sharing and analysis in rare disease research, S. Beltran et al.
P12– 2016 BBMRI-LPC WES Call: An opportunity to diagnose six unsolved cases within SpainUDP, Manuel Posada de la Paz et al.
P13– Undiagnosed: Genetic conditions and the impact of genome sequencing, Emily Muir et al. 
P14– Progress in Rare Diseases Research 2010–2017: An IRDiRC Perspective, Jagut, M. et al. 
P15– PROFILE: Immunoprofile-directed stratification of patients with the autoimmune disorder thrombotic thrombocytopenia purpura, Nuno Graça et al.
P16-Patient partnership to advance translational research an inherited skin tumour syndrome: CYLD cutaneous syndrome as an exemplar, Neil Rajan
P17– Initiative for the harmonization of the quality assessment for analyses performed by the Belgian Centers for Human Genetics in the context of Rare Diseases, Lantoine Joséphine et al.
P18– OKIDS Activities Q3-2013 to Q4-2017, Prof.Dr. Ruth Ladenstein
P19– Developing Integrated Care in the Context of Rare Chromosomal Conditions: 22q11 Deletion Syndrome – A parent/clinician action research collaboration, Lawlor A et al.
P20– Recommendations For Improving Quality Of Rare Diease Registries, Yllka Kodra et al.
P22– Non-clinical animal models used in support of the orphan drug designations in infectious diseases, Eva Malikova
P23– International course on rare disease registries and FAIRification of data at the source, Yllka Kodra
P24– HIPBI-RD: Harmonising phenomics information for a better interoperability in the rare disease field, Marc Hanauer et al.
P25– Depression and anxiety in patients with pulmonary hypertension: Looking beyond disease status, Aldo Aguirre-Camacho
P26– Accelerating the development of RD drug candidates through public-private partnerships, Roseline Favresse et al.
P27– Training and empowering patients on scientific research: the example of Fondazione Telethon, Alessia Daturi et al.
P28– Target 5000 – Gateway to Vision for Irish Retinal Degeneration Patients, Laura Brady et al.
P29– “Like trying to read a map in the dark”: undiagnosed genetic conditions, service use and further research, Amy Simpson
P30– Translational Feasibility Assessment To Optimise Project Design, Florence Bietrix
P31– 100,000 Genomes Project at Birmingham Children’s Hospital:  a start of genomics in re-shaping the landscape for rare disease diagnosis, Maria Kokocinska
P32– CELPHEDIA, a French research infrastructure, reference center for animal research on rare diseases, Philippe Schmitt
P33– The TREAT-NMD Advisory Committee for Therapeutics: A multi-disciplinary expert approach to drug development advice with patients as part of the team, Cathy Turner et al. 
P34– The AKU Society & DevelopAkure: A patient-centric clinical trial, Ciarán Scott et al.
P36– The ONCE (Spanish National Organization of the Blind) Genetic Testing and Councelling Program for Patients with Eye Rare Diseases. AN 11 Years Survey, Elvira Martin et al.
P37– Solve-RD. Solving the Unsolved Rare Diseases, Holm Graessner
P317– Disease Registry & Biobank, Patient Association and Biopharmaceutical Company: a successful work in concert for Multiple Osteochondromas disease, Marina Mordenti et al. 

Thema 2: Vorbereitung auf revolutionäre Produkte

Compassionate-Use-Programme für Produkte für seltene Erkrankungen: beschreibende Analyse, Umfang, Zeitplan, erfasste Daten, Ergebnisse; Industrieerfahrung mit dem PRIME-Programm der Europäischen Arzneimittel-Agentur (PRIority MEdicines Scheme); HTA-Agentur- bzw. Industrieerfahrung mit paralleler wissenschaftlicher EMA- und HTA-Beratung; HTA-Agentur- bzw. Industrieerfahrung mit EUnetHTA gemeinsamen HTA-Berichten (pharmazeutisch oder nicht-pharmazeutisch); Patientenbeteiligung an HTA auf nationaler bzw. europäischer Ebene: Beschreibung des Verfahrens, geleisteter Beitrag, Auswirkungen; gemeinschaftliches Beratungsgremium – CAB (Community Advisory Board) von Patientenvertretern: Ihre Erfahrung bezüglich der Einrichtung und Leitung eines CABs bzw. Industrieerfahrung im Umgang mit einem CAB; innovative Methoden für die gesundheitsökonomische Bewertung; systematische Vorausschau von Patientenorganisationen.

P40– Orphan Drugs Law in Europe, Loic Rigal
P41– VISION-DMD – Clinical development of an innovative designer drug for the rare disease Duchenne Muscular Dystrophy, Christina Olsen
P42– An international collaboration to develop a new repurposed therapy for metaphyseal chondrodysplasia type Schmid (MCDS), Rick Thompson et al. 
P43– The CF Europe CAB, Hilde De Keyser
P44– The European Cystic Fibrosis Patient Registry (ECFSPR): platform for pharmacovigilance, van Rens J et al. 
P46– Community Advisory Boards (CABs) in rare diseases: Can patients change the clinical study paradigm?, Rob Camp
P47– Anti-neutrophil cytoplasmic antibody associated vasculitis (AAV)  – understanding epidemiology and service organisation in new product development, Rutherford et al.
P48– Phosphorodiamidate Morpholino Oligomers for Treatment of Duchenne Muscular Dystrophy, Emily Naughton
P49– Repurposing propranolol for the treatment of von Hippel-Lindau syndrome, Beatriz González-Rodríguez et al. 
P50– TEE786, first-in-class medicine addressing nonsense mutation mediated disorders, Terence Beghyn et al.
P52– Expensive and Poorly Sustainable Drugs: Strategies to Manage the Costs, Matteo Volta
P318– Real World Experience of PIM and PRIME Applications, Graeme Deuchar et al. 

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Thema 3: Der digitale Patient

Entwicklungssprünge für digitale Innovationen im Gesundheitswesen; Beispiele patientengeführter Revolutionen; Berichte über die digitale Transformation des Gesundheitssystems, einschließlich Erfahrungen von Krankenhäusern, Gesundheitsdienstleistern und Patienten, Hervorhebung der Erfolge und Fehlschläge, aus denen gelernt werden sollte.

P58– Monitoring Physical Activity Using a Wearable Device in Pompe Disease, Alaa Hamed
P59– General Data Protection Regulation (GDRP) compliant patient registration and pseudonymisation for Rare Disease Research, Michael Nitzlnader
P60– Orphacodes’ use for the codification of rare diseases: results of the testing activity carried out within the RD-Action framework, Monica Mazzucaton et al.
P61– Digital innovation for thalassaemia patients: TIF e-Academy for personalised health education, Victoria Antoniadou
P62– Therapeutic algorithms digitalized for identification of rare autoinflammatory diseases in childhood, Barbara Bori
P63– Rare diseases and Twitter. Big Data based analysis of #RareDisease in an interdisciplinary approach, Sára Simon
P64– Matching Clinical Trials with Patients: Global Patient Search and Identification using De-identified EHRs, Tigran Arzumanov et al. 
P65– PID Genius: A Mobile Application by Patients for Patients. Personal Assistant for Patients with a Primary Immunodeficiency, Martine Pergent
P67– Using real cross-institutional clinical Data to identify Rare Diseases in practice, H Storf
P68– Share4Rare – Social media platform dedicated to rare diseases, using collective intelligence for the generation of awareness and advanced knowledge, Begonya Nafria Escalera
P69– Norway aiming for AI and chatbots, Ståle Tvete Vollan
P70- Supporting adolescents struggling with appearance-altering conditions: Feasibility and acceptability of online psychosocial intervention (Ung Face IT), Kristin Billaud Feragen
P71– A generic tool for disease-specific care plans for shared decision making, Ildikó Vajda
P72– Can rare disease trials be redesigned to be more patient centric using wearables?, Marie McCarthy et al.
P73– Empowering Patients to Make Informed Decisions: FIRECREST eConsent, Caroline Forkin
P74– Mamem, Athanasiou Dimitrios
P75– Wearable Technologies Feasibility As An Outcome Measure In Niemann Pick-C, A Donald
P76– Healthbank – Your global people-owned health data transaction platform, Dr. Daniela Gunz
P77– How to improve the codification of RD with ICD-10 and Orphacodes, Magdalena Maria Marx
P78– Recommendation and guidelines for the coding with Orphacodes, Franzisca Marie Dulas et al.
P79- EUROlinkCAT – a Horizon2020 study 2017-2021, I Barisic
P81– 3D CT digital reconstruction and analysis of Gorlinand Goltz syndrome, P. Hlinakova
P82– Rare diseases in orofacial area – intraoral and facial scanner growth monitoring, Tatjana Dostalova
P84– Rare diseases and oral health-related quality of life: a report from Germany’s first consultation hour for rare diseases with oral manifestations, Marcel Hanisch

Thema 4: Lebensqualität: das Entscheidende, entscheidend machen

Vermittelt Patientenperspektiven zu Lebensqualität; Methodologien zur Definition von Ergebnissen und Indikatoren zu Lebensqualität; Fallstudien bedeutungsvoller Integration der Indikatoren zu Lebensqualität in der Gestaltung und Bewertung von Behandlungen und Dienstleistungen; Fallstudien zum Patientenmanagement; innovative Dienstleistungen, Politiken oder Praktiken zur Umsetzung integrierter Versorgung von Menschen mit seltenen Erkrankungen; nächste Praktiken zur Gewährleistung einer besseren Lebensqualität der Menschen mit seltenen Erkrankungen und ihren Betreuungspersonen, wie zukunftsweisende Politiken, Dienstleistungen und Technologien.

P4-Progress in Rare Diseases Research 2010–2017: An IRDiRC Perspective, Marlène Jagut
P14–  Helpline Seltene Krankheiten – improving patient care in rare diseases, Saskia R. Karg
P87– Listening and Information service and guidance, Laura Gentile
P88– Conduct the QOL survey using J-RARE – NANBYO Patients’ Data Platform led by patients, Yukiko Nishimura
P89– Health status according to the IFC in people with short stature due to skeletal dysplasia, Sinikka Hiekkala
P90– Clown-Doctors Reduce Fear in Children with Rare Kidney Diseases, Viktoras Sutkus et al.
P91– A mixed methods study of the journey to diagnosis among patients with AL amyloidosis, Jillian Silva-Jones
P92– Good off-label use practice (GOLUP) for patients with rare diseases, Marc Dooms
P93– A Familial Case of X-linked thrombocytopenia/Wiskott-Aldrich Syndrome with a Mutation in Exon 2 of the WAS Gene in an Irish family., Bushra Al Fugair
P95– Quality of life in children with rare oro facial diseases: a mixed-method multicentric study, Lisa Friedlander et al.
P96– Work productivity and impairment among patients with light chain amyloidosis, Tiffany Quock
P97– A Family System based Research Approach in Genetic Rare Diseases, Dr Suja Somanadhan
P99– Key learnings from the 1st European Patient Advisory Board meeting for Leber’s Hereditary Optic Neuropathy (LHON), Vanessa dos Reis Ferreira
P100– Access to Orphan drugs and quality of life in Rare diseases, Amar Abbas et al.
P101– Why Respiratory Health in Duchenne Muscular Dystrophy (DMD) matters?, Vanessa dos Reis Ferreira
P102– Measuring the effects of a case management approach on the quality of life of rare and complex disease patients, Juliet Tschank et al.
P103– The effect of haemophilia on activities of daily living; PROBE cohort, Mark Skinner
P104– Patient experience and quality of life in ANCA-associated vasculitis – themes and gaps, Rutherford et al.
P106– The Involvement of Primary Care in Ireland in the management of Rare Disease, Jacqueline Turner et al.
P107– Marfan Syndrome And Counselling: A New Perspective, C. Donzelli et al.
P108– Survey on Finnish HAE patients’ experiences of quality of life, Risto Heikkinen
P109– Benchmarking utility estimates in rare diseases may guide the selection of data inputs in health economic modelling, Robin Thompson et al.
P111– Implementing Strategy into Action – First Year Results of the Office for Rare Conditions, Glasgow, Elizabeth Dougan et al.
P113– Examining low-threshold support and guidance in rare genetic diseases, Elina Rantanen
P114– Study of needs of people with Lipodystrophy and their relatives in Ibero-America, José Jerez Ruiz
P115– Empowering young women with the rare genetic disorder 22q11.2 Deletion Syndrome to share their lived experience and mental health support needs, Kerin, L
P116– Social Economic Costs, Quality of Life and Disability in Patients with Cri du Chat in Italy, Yllka Kodra
P117– Caregiver Burden Due To Pulmonary Exacerbations (PEX) In Cystic Fibrosis (CF): A Survey Of Caregivers Of Paediatric Patients With CF In The UK, Ireland and Germany, Teja Thorat
P118– Rasch analysis of the Individualized Neuromuscular Quality of Life Questionnaire administered to patients with Dysferlinopathy, Dr Anna Mayhew
P119– The burden of Wilson disease: results from a French patient questionnaire, Aurelia Poujois MD et al.
P120– Psychological counselling and social services as dual pillars of an integrated case management approach for people living with a rare disease, Sarah Weiler
P122– The effect of haemophilia on activities of daily living; PROBE cohort, Mark Skinner
P123– Mental health and rare diseases: mixed methods study and policy recommendations, Boyer et al.
P124– How patient’s preference and interest are taken into account for the OD designation and OD maintenance in EU?, Camille Metais
P125– (Ask and you will receive (Matthew 7:7) The experience of A.B.C. Associazione Bambini Cri du chat.C. (Associazione Bambini Cri du chat) Italy, Maria Elena Liverani et al.
P126– International Guidelines for Management of Communication in Rett Syndrome, Gillian S Townend et al.
P127– Quality of Life of Norwegian Adults With Primary Antibody Deficiencies, Knut Midttun M.D et al.
P128– Impact of a Rare Disease on the Broader Family Unit: A Novel Survey Assessing Factors Impacting Siblings of Children with Severe Childhood Epilepsy, Laurie D. Bailey
P129– Evaluating the Impact of Peer Support and Connection on the Quality of Life of Patients with Familial Chylomicronemia Syndrome, Valerie Salvatore et al.
P130– Impact of Hereditary Transthyretin-Mediated Amyloidosis on Daily Living and Work Productivity: Baseline Results from APOLLO, Hollis Lin et al.
P131– Impact of Hereditary Transthyretin-Mediated Amyloidosis on Use of Health Care Services: An Analysis of the APOLLO Study,Madeline Merkel et al.
P132– Mental health and rare diseases: mixed methods study and policy recommendations, Amy Hunter
P133– Examining the high diseases burden and impact on quality of life in familial chylomicronemia syndrome, Michael Davidson et al.
P135– Deriving quality of life issues in primary sclerosing cholangitis (PSC): a strategy for systematic reviewing and identifying potentially relevant issues, Marcus E et al.
P136– Developing The First Children’s Rare Disease Centre and Service, Kerecuk L et al.
P137– Impact of Acute Hepatic Porphyrias on Quality of Life and Work Loss: An Analysis of the EXPLORE Natural History Study, Laurent Gouya et al.
P138– Thinking about the big picture. Genetic counselling for Susceptibility Loci for Neurodevelopmental Disorders -A case study, Elizabeth Alexander
P139– ENSERio: Study on the situation of Sociosanitary Needs of people with Rare Diseases in Spain. 2016-2017,Alba Ancochea and Aitor Aparicio
P140– Helpline Seltene Krankheiten – improving patient care in rare diseases, Saskia R. Karg et al.
P141– Motor disability, rare diseases and motherhood: a longitudinal study, Dr Sylvie Viaux Savelon
P142– Impact of Severe Rare Childhood Epilepsy on Siblings: Interim Findings from the Sibling Voices Survey, Laurie D. Bailey et al.
P143– Model of Quality of Life in Rare Diseases, Miguel Angel Ruiz Carabias
P144– Home Care and Palliative Care in rare diseases, Miguel Angel Ruiz Carabias
P315– Quality of Life and Burden of Disease in Tuberous Sclerosis Omplex/ Findings from Tosca Research, Federica Castiglione

Thema 5: Wirtschaftliche Perspektiven seltener Erkrankungen

Studien über die Belastung durch seltene Erkrankungen, die Kosten von Erkrankungen (individuelle Erkrankungen und auf aggregierter Ebene); Beispiele der Anwendung von Werterahmen für Zugangsentscheidungen; Bewertung der Machbarkeit von neuen Finanzierungsansätzen; Vorausschau in das nächste Jahrzehnt: Herausforderungen & Chancen.

P146– Healthcare Utilization and Costs in Commercially Insured Patients With AL Amyloidosis, Tiffany P. Quock et al. 
P147– Real-world health care expenditures associated with Standard & Extended Half-Life recombinant factor IX products for management of Severe Hemophilia B, Amit Chhabra et al.
P148– Real-world outcomes associated with standard half-life and extended half-life factor, Amit Chhabra et al.
P149– International collaboration in value assessment: the Hercules experience, Emily Crossley et al.
P150– The challenge and promise of regional secondary data analysis for rare diseases – the EMRaDi project, Rok Hrzic et al. 
P151– Multicriteria Decision Analysis for health care decision making in Catalonia: development of a specific evaluation framework for orphan drugs, Merce Obach et al.
P152– Public Patient Involvement Engagement – A Comprehensive Approach to Health Economics and Outcome Research Evidence Collection and Analysis, Jamie O’Hara et al.
P153– European Health Technology Assessment (HTA) exemptions and exceptions for orphan medicines, Richard Sear et al.
P154– Genomic medicine for the rare diseases patients – a Romanian experience, Puiu Maria et al.
P156– Did OD legislation foster R&D resources allocated to rare diseases?, Setti Raïs
P157– Are Patient Perceptions in Rare Diseases Consistent with Quantitative Indicators of Reimbursement and Healthcare Expenditure in the EU5?, Kate Hanman
P162– Patient Public Involvement Engagement – A Comprehensive Approach to Health Economics and Outcome Research Evidence Collection and Analysis, Alison Rose et al. 

Thema 6: Globale Seltene Gerechtigkeit: Haben wir das bereits erreicht?

Beispiele, wie Sie an der Schaffung einer größeren internationalen Synergy arbeiten, um Veränderungen auf globaler, nationaler und lokaler Ebene herbeizuführen.

P159– Rare diseases GO FAIR! – a networking initiative to foster the implementation of FAIR principles in the rare disease community, Marco Roos et al.
P160– Genodermatoses & Rare Skin Disorders International Network, May El-Hachem et al.
P161– Enrichment of rare disease patient registries by FAIRification, Annika Jacobsen et al.
P163– Inequity on Neurofibromatosis type 2 as knowledge and awareness: the paradigmatic Italian situation, Stefania Mostacciol
P164– Connecting the dots: global networking among patients with giant congenital melanocytic nevus and with medical and scientific stakeholders, Marjolein van Kessel
P165– Moving Towards New Rare Disease Research Goals: IRDiRC Elaborates its Roadmap for 2018, Jonker AH et al.
P166– Levers & barriers for orphan drug business development: a systematic literature review, Dr. O. Belousova et al.
P167– Thalassemia, worldwide, Soroya Beacher et al.
P168– Catalonia’s Care Model for Rare Diseases (RD) (Spain), Roser Francisco et al.
P169– Thalassemia, a worldwide, Liesbeth Siderius et al.
P170– The Swedish National Center for Rett Syndrome & Related Disorders – support and information to patients, families, care assistants, and other professionals, Liesbeth Siderius et al.
P171– The Swedish National Center for Rett Syndrome & related disorders – support and information to patients, families, care assistants and other professionals., Monika Dolik-Michno et al.
P173– Narrative medicine and health technologies: opportunity or risk for rare disease health systems equity and sustainability?, Aalia Egle Gentile et al.
P173– Narrative medicine and health technologies: opportunity or risk for rare disease health systems equity and sustainability?, Amalia Egle Gentile et al.
P174– Light from Dark, Guðmundur Björgvin Gylfason et al.
P175– Equity and Health System Sustainability for Rare Diseases, Ferrelli Rita Maria et al.
P176– Review of 11 national policies for rare diseases in the context of key patient needs, Matthew Harold

Thema 7: Europäische Referenznetzwerke

Berichtet über Erfahrungen und beste klinische Praktiken von Europäischen Referenznetzwerken, bestehenden nationalen und europäischen Fachzentren; Beispiele zur Entwicklung von ERNs sowie nationaler Netzwerke – von der Idee zum Erfolg, Beispiele wie Netzwerken die Versorgung von Patienten bedeutend verbessert hat; Erfahrungsberichte oder Ergebnisse von Studien, über welche klinischen Ergebnisse und Daten relevant für die Messung des Nutzens für Patienten sind; Ergebnisse der nationalen und europäischen Patientenregister für spezifische seltene Erkrankungen; Richtlinien für die beste klinische Praxis; Erfahrungsberichte zu eGesundheitsplattformen, neue mGesundheitshilfsmittel (mobil), um Interesse von Patienten zu wecken; Erfahrungsberichte und beste klinische Praktiken zu e-Verschreibungen; Erfahrungen dazu wie Netzwerke mit lokalen (nationalen oder regionalen) Gesundheitssystemen verbunden werden können; Erfahrungsberichte über die Schulung von Beschäftigten des Gesundheitswesens und Patienten, die voneinander lernen.

P177– ERN-EYE first year, set the scene for e-Health within the network:
a common ontology for all Rare Eye Diseases and first achievements of the year, D. Leroux
P178– ERNICA. The European Reference Network on rare Inherited and Congenital Anomalies., Renée De Ruiter
P179– ERN CRANIO. The European Reference Network for craniofacial anomalies and ENT disorders, Prof. dr. Irene Mathijssen
P180– Molecular data for rare diseases – the added value of data interoperability, Friederike Ehrhart et al. 
P181– EURACAN : European Reference Network on Rare Adult Solid Cancers, M. Rogasik, 
P182– Patient involvement on vascular anomalies in the European Reference Network VASCERN, Caroline van den Bosch et al. 
P183– ERN RITA, Lydia Tropper
P184– Who We Are, Caroline van Heesewijk
P185– ERN-TRANSPLANTCHILD, a European strategy to attend “the secondary rare disease” induced by Paediatric Transplantation, Francisco Hernandez
P186– The European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases: ERN Reconnect, Marta Mosca et al. 
P187– The way forward: From Centres of Expertise to national Networks of Expertise, J. Martens et al. 
P188– Endo-ERN, Johan de Graaf et al.
P189– ERN-Skin, Prof. C. Bodemer
P190– VASCERN, ERN on rare vascular diseases, Marine Hurard
P191– Participation of EU-13 countries in European Reference Networks, Birute Tumiene
P192– How has RD-ACTION supported the conceptualisation and implementation of ERNs?, Victoria Hedley
P193-Clinical Patient Management System for European Reference Networks, Hany Mina
P194– ERN-LUNG / Executive Summary, Olivia Steinmann
P195– The Italian National Rare Disease Registry: epidemiology of rare diseases in Italy and European Reference Networks, Taruscio D et al.
P196– ERN-EuroBloodNet: The European Reference Network in Rare Hematological Diseases. 1st year of implementation, Pierre Fenaux et al.
P197– The RD-Connect Registry & Biobank Finder : the online directory of existing rare disease registries and biobanks, Paola Torreri
P198– European Reference Network for rare Neuromuscular Diseases: EURO-NMD, progress so far., Rebecca Leary et al.
P200– Epidemiology of the Lipodystrophies in Spain. The Experience of a Reference Unit, Antía Fernández-Pombo et al. 
P201– Efficiency of a multidisciplinary approach to Osteogenesis Imperfecta, B. Aubry-Rozier et al. 
P202– ERN GENTURIS (European Reference Network on Genetic Tumour Risk Syndromes), Nicoline Geverink
P203– MaRIH, a French network for rare immunohematological disorders, Amélie Marouane et al.
P204– The European Reference Network for Rare Neurological Diseases – Progress during the first year, Holm Graessner
P314– ERN-BOND Surveys on Diagnosis of Osteogenesis Imperfecta: the healthcare professional and patients experience, Matias de la Calle et al. 
P320– The European Reference Network Program and the MetabERN (ERN for Rare Hereditary etabolic Diseases), Maurizio Scarpa et al. 
P321– Saving lives through access to quality care, Elena Botanina

Thema 8: Innovationen von Patientengruppen für seltene Erkrankungen

Innovative Strategien/Ansätze/Dienstleistungen oder Projekte, die potenziell für andere Patientengruppen/Beschäftigte des Gesundheitswesens/Akademiker nützlich sein könnten oder, die es verdienen, international gefördert und von nationalen und europäischen Behörden anerkannt zu werden.

P205– MalatiRari Live! The innovative video conferencing and video consultation system for rare disease patients. Rare professionals for the rare community, Serena Bartezzati
P206– Historically first web portal about personal assistance in the Slovak republic
P207– Multilevel supportive networks for rare diseases, Dorica Dan
P208– UNIAMO GOLDIN Impresa Sociale & UNIAMO FIMR onlus, Circelli Maria
P209– The Global Alagille Alliance (GALA) Study: Advancing Research, Changing Lives, Cindy D. Luxhoj et al. 
P210– GM1 gangliosidosis: molecular, clinical and neuro-psychological  timeline in three isolated italian patients, Fischetto Rita et al.
P211– An analysis of the impact and barriers to patient engagement from the perspective of patient associations and pharma companies, Merlin Williams
P212– 22q Transition Clinic: Belfast model of Partnership and Quality Improvement, Dr Tabib Dabir
P213– Innovative Approaches to Rare Diseases Research, Education and Awareness, Somanadhan,S et al. 
P214– “Les petits MecP2” and STOP orphan, an innovative model toward the discovery of new treatment for MECP2 duplication syndrome, Laurent DeClimmer
P215– Role of Specialized Centre and Teamwork in the Diagnosis of Marfan Syndrome and Prevention of Acute Aortic Dissection, F. Bertoldo et al.
P216– Reaching patients with an orphan disease – Tuberous Sclerosis Complex (TSC), Nicholas M.P et al.
P217– Genetic Toolkit for Inherited Retinal Dystrophies (IRDs), Avril Daly et al. 
P218– Gaucher Best Practice – Sharing experience of the daily life with Gaucher disease, Irena Žnidar et al. 
P219– Physical performance of children with Prader-Willi Syndrome following a 10-week sports therapeutic intervention, Marie Herzig et al. 
P220– The IOPD Information Pack – Support for families with children with Infantile Onset Pompe Disease, Vivienne Beckett
P222– „Leaving the nest” programme to support the more independent life of youth living with rare disease., Zsuzsanna Bojtor Pogány et al. 
P223– Rare Disease Information Centre and Help Line Created by Patient Organisations, Gábor Pogány et al. 
P224– A Proven Patient Public Involvement Engagement Methodology – Delivering Equity in Design, Planning and Co-Producing Healthcare, Alison Rose et al. 
P225– Patient Engagement Guide for improved patient-company interactions, Britt van de Ven et al. 
P226– Patients experiences are essential for improving the quality of health care, Marinda Hammann et al. 
P227– Drivers and obstacles of integrated care in different national contexts, Barbara Glinsner
P228– To generate rare storm among the public by social media, Tsang Kin Ping et al. 
P229– Autosomal recessive polycystic kidney disease (ARPKD) RADAR Registry and Rare Disease Group, Tess Harris 
P230– An integrated ‚one-stop‘ multi-disciplinary (MDT) clinic for children and young people with Tuberous Sclerosis Complex (TSC), Maduri Raja
P231– French network helplines for rare NMD, Marguerite Friconneau
P232– Social Work in Rare Diseases. Theoretical and Practical Focus.,Juan Carrión and Estrella Mayoral
P233– Co-creation of patient materials for adrenal insufficiency to address patients‘ treatment concerns, Helen Lycett et al. 
P235– Mapping patients perceptions to differentiated thyroid cancer to improve treatment outcomes, Chloe Tuck et al.
P236– Raising rare disease awareness with regulators: lessons from a Patient Focused Drug Development Initiative pilot and applications for Europe, Sarah Richard
P239– CDG & Allies – Professionals and Patient Associations International Network, Rita Francisco et al. 
P240– Navigating the transition to adult healthcare for rare diseases, Malin Grände et al. 
P316– DMD HUB: Expanding clinical trial capacity for Duchenne Muscular Dystrophy in the UK, Emma Heslop

Thema 9: Offene Thematik

Was würden Sie gerne über Ihre Erkrankung, Ihre Maßnahmen oder Ihre Vision sagen?

P242– Progressive infantile (cardio)encephalomyopathy with peripheral neuropathy and respiratory insufficiency identified as SCO2 deficiency, M. Zlamy et al.
P243– POEMS syndrome: a diagnosis not to be ignored, SALIM Salma et al.
P244– Sturge-Weber Syndrome, SALIM Salma
P245– When the wrong pill can kill – The acute porphyrias, Jasmin Barman-Aksözen et al.
P246– Venture Philanthropy for Orphan Drug Development., Ritchie Head
P247– The State of the Art of Rare Disease Activities in EU Member States
P248– Cavum Cancer with Ophtalmological Manifestations, Abdi Rhizlane
P249– Pitt-Hopkins syndrome, Sue Routledge et al. 
P251– Gene therapy for ADA-SCID patients: StrimvelisTMas a successful model for the development of accessible advanced therapies for ultra rare diseases, Lucia Monaco et al. 
P252– RareDx: A national training event to raise awareness of rare diseases in primary care, Srinivasa Rambhatla et al. 
P254– Promoting Implementation of recommendations on Policy, Information and Data for Rare Diseases: RD-ACTION first two years ‚ achievements, Sylvie Maiella et al. 
P255– Comparing the NICE HST programme with assessment by the HAS and the G-BA, Lucy Nelson
P256– Assessing Criteria for NICE recommendation with the HST Programme, Lucy Nelson
P257– Orphanet, reference source of epidemiological data on rare diseases, Nguengang Wakap S et al. 
P259– Survey on rare disease patients’ experiences of participation and possibilities of influencing in social and health care service structures, Kati Saari
P260– Assessing the role of Material and Technology among the families of children and young people with Metabolic Rare Diseases, Dr Suja Somanadhan
P261– A case report of sirenomelia in Cambodia, Chariya Chhea
P262– Establishing the Norwegian Registry on Rare Disorders, Linn Grimsdatter Bjørnstad et al. 
P263– Rare diseases magazine – information platform for all stakeholders in rare diseases in Russia, Irina Miasnikova et al. 
P264– Unique occurrence of long bone fragility with cranial hyperostosis: Searching for the genetic culprit, Adalbert Raimann et al. 
P265– Effects of a newly established lipid apheresis for a young homozygous familial hypercholesterolemia population at the Medical University of Vienna, Nina-Katharina Walleczek
P266– Health and Disease in the Children of the Irish Traveller Community, nne-Marie Murphy et al. 
P267– PATIENTS’ RIGHTS IN GREEK REALITY, Marianna Lambrou
P268– A survey on rare disease patient organizations in Italy, Nutini Michele et al. 
P269– Rare Academy in Norway – „Sjelden.no“, Kari Hagen et al. 
P270– Making a Difference: facilitating opportunities for those affected by rare diseases to shape the healthcare landscape in Wales, Rhian Morgan
P271– Bulgarian Acromegaly Database Clinical Studies, Dimitar Stoyanov
P272– The Burden of Disease of B-Thalessemia in Germany- Current Results from A Claims Database Analysis, Kim-Sarah Krinke
P273– Sharing Physiotherapy Knowledge About Rare Diseases – The Strategy of National Neuromuscular Centre, Norway, Ane Fadnes et al.
P275– 3 Years se-atlas – Mapping of Health Care Providers and Support Groups for People with Rare Diseases, Johanna Schaefer et al. 
P276– Efficacy of an orphan drug: The patient perspective, Cornelia Dechant et al.
P277– Things Left Unsaid – Important topics not discussed during systemic sclerosis consultations: impact on patients and caregivers, CP Denton et al.
P278– Molecular diagnostics of acute intermittent porphyria in Russia, Maria Goncharova et al.
P279– The extended newborn’s screening has finally become a compulsory national public service in Italy: none of them will be left behind anymore, Manuela Vaccarotto et al.
P280– Challenges in physician-patient communication limit patient understanding and support in SSc-ILD, CP Denton et al. 
P281– Autism spectrum disorder in patients with rare diseases, Bobinec A et al. 
P284– Pediatric challenges in Orphan Drug Development, a Review of Issues and Possibilities, Frédéric Honoré et al.
P285– The UN Sustainable Development Goal 4 – How can Ågrenska and the Rare Disease Community cooperate and try to contribute?, AnnCatrin Röjvik et al. 
P286– Easy access to reliable information about rare diseases, The Swedish Information Centre for Rare Diseases 
P287– From small networks to organizations, Stephanie Jøker Nielsen et al.
P288– Whole exome sequencing in 186 transposition of the great arteries cases reveals extensive and complex genetic etiology, Wen Chen et al.
P289– European Registry of Lipodystrophy based on the OSSE-Framework, J Schaaf et al. 
P290– Rare Diseases Registry in Basque Country: first steps, Oregi Lizarralde et al. 
P291– Cooperation in the Field of Rare Diseases: A Social Science Perspective, Fanny Duysens
P292– Rare Diseases Foundation of Iran, Marjan Hemmati
P294- Rare Diseases in Spain: a nationwide registry-based mortality study, Verónica Alonso et al. 
P295– Scleroderma in Spain: hospitalization characteristics, costs and mortality, Ana Villaverde-Hueso et al.
P296– Overview of Rare Renal Diseases at a Paediatric Renal Center through the National Registry of Rare Kidney Diseases (RaDaR) in the United Kingdom, Sharon Parkes
P297– Stiff Person Syndrome, Liz Blows et al.
P299– National Plan of Action for People with Rare Diseases. Further developments, Dr. Miriam Schlangen et al. 
P301– Lessons learned from IDeAl – 33 recommendations from the IDeAl-Net about design and analysis of small population clinical trials, Ralf-Dieter Hilgers
P302– Bêta-thalassémie and Oral Manifestations, Allal Nawel et al.
P303– Severe scoliosis treatment in patient with Type III Osteogenesis Imperfecta – Case Report, Andreia Mercier Nunes et al. 
P304– „Mitochondrial DNA mutation m.3243A>G“ – a phenotypic chameleon independent of age and gender, Katharina Niedermayr et al. 
P305– Clinical application of next generation sequencing in diagnosis of hereditary spastic paraplagia, Vasli, N. et al.
P306– ROMSE- A database for rare diseases with orofacial and craniofacial manifestations, Lale Hanisch