Posters-de

P01: Genomic testing in the emerging era of precision medicine: Lessons learned from studies in larotrectinib, Jo Ballot et al.

P02: Case report: Calculating cost-benefit of earlier diagnosis for a patient with Behcet’s disease, Orlando Buendia et al.

P03: Case report: cost-benefit of earlier diagnosis in a patient with Behcet’s disease using CTV3 codes at primary care UK, Orlando Buendia et al.

P04: Rare genetic diseases in Timis Regional Centre of Medical Genetics, Romania, Maria Puiu et al.

P08: Molecular-Based Newborn Screening for Cystinosis and Spinal Muscular Atrophy (SMA) in Germany, Katharina Hohenfellner et al.

P10: The Importance of Diagnosis in Lipodystrophies, Jose Jerez Ruiz et al.

P11: Visualization techniques in a Clinical Decision Support System for Rare Diseases, Jannik Schaaf et al.

P12: Siglec-6: a potential new biomarker for clonal mast cell diseases, Andrea Renate Teufelberger et al.

P015: Mind the gap – Rare transition from child to adult care, Åsa Lundin et al.

P16: We made the therapies, now give us newborn screening!, Annamaria Zaccheddu et al.

P18: Molecular studies of intestinal malrotation, Karin Salehi Karlslätt et al.

P19: Volumetry of the anal sphincter complex in infants with anorectal malformation, Patricia Feil et al.

P20: CDG Diagnosis: A simplified guide for different stakeholders, Carlota Pascoal et al.

P21: A microdeletion syndrome at 9q21.11-q21.31 characterised by mental retardation, speech delay, epilepsy, Anila Laku

P22: Autism, Epilepsy and Genetics – An experience with the gene SCN2A, Nicolas Lorente

P23: Timeliness of Genetic Diagnosis in Critical Newborns: Proposal of a Dedicated Diagnostic Path, Cortellessa Fabiana et al.

P24: The CIBERER Program for Undiagnosed Rare Diseases (ENOD). A collaborative and multidisciplinary approach to diagnosis, Beatriz Morte et al.

P25: Germline mutation c.4031CT (S1344L) in the RNase IIIa domain of DICER1 causes GLOW syndrome, Emeli Pontén et al.

P28: Next Generation Sequencing (NGS) an opportunity for patients non-diagnostic in Lysosomal Storage Disease, Isidro Arévalo-Vargas et al.

P29: Genetic diagnoses in skeletal ciliopathies using MPS, structural variant, and RNA analyses, Dominyka Batkovskyte et al.

P30: Stiftelsen Sällsyntafonden – The Rare Disease Research Foundation, Ann Nordgren et al.

P031: Mapping of Resources from Networks for Undiagnosed and Newly Diagnosed Ultra-Rare Diseases, Gulcin Gumus et al.

P32: Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy (SMA) in the United States, Anish Patel et al.

P33: A case of ring chromosome 21 with hemifacial microsomia, developmental and speech delay analysed with WGS and patient-derived NES cells, Jakob Schuy et al.

P34: Whole genome sequencing discovers clonal evolution of leukemic clones from birth to the time of diagnosis of concordant acute lymphoblastic leukemia in a monozygotic twin pair, Fulya Taylan et al.

P35: Genetics in Belgium: Today And Tomorrow, Joséphine Lantoine et al.

P36: Extended newborn screening, Manuela Vaccarotto et al.

P37: Engaging and Involving the Rare Disease community in Wales through Genomics Cafes, Rhian Morgan et al.

P38: Co-production of the Welsh Rare Disease Research Gateway, Emma Hughes et al.

P39: Genomic data and the NHS: views of rare disease patients and carers, Amy Hunter et al.

P40: The reality of undiagnosed ‘Rare Patients’ – claiming for an improvement in their life-quality, Alba Ancochea.

P41: Position Paper on Extended Newborn Screening by the Italian Associations of People Living with Rare Diseases, Annalisa Scopinaro.

P42: KIAA0753 mutations in skeletal ciliopathies: unveiling disease mechanisms, Raquel Vaz et al.

P43: A Novel Globotriaosylceramide Quantification Assay for the Rapid Diagnosis of Fabry Disease, Allan Ng Wee Ren et al.

P227: Abdominal Pain «Without a Good Reason» – Think Acute Hepatic Porphyria!, Jasmin Barman-Aksözen et al.

P045: Advancing meaningful patient involvement: case HARKKO patient advocacy group, Carita Åkerblom et al.

P046: “I may have CF, but it does not have me” Independent living and Cystic Fibrosis, Sarah Tecklenborg et al.

P047: Children’s voices in Rare Diseases – Sand play, arts, music, photo voice and interviews, Sandra McNulty et al.

P048: Unmet needs of adults with XLH: results from a survey of European patient organizations, Pol Harvengt et al.

P050: Views on everyday life among adults with spina bifida: an exploration through photovoice, Hanna Gabrielsson et al.

P051: Measuring parenting stress, quality of life and resilience related to caring for children, young people and adults living with Mucopolysaccharidosis (MPS), Suja Somanadhan et al.

P052: SEE ME. HEAR ME: Support for anyone living with, or affected by, ANCA-associated vasculitis (AAV), Peter Verhoeven et al.

P053: TemeRARI si nasce – Born to be Brave, Manila Boarini et al.

P054: Empowerment Intervention for persons affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital, Francesca De Lorenzo et al.

P055: Addressing the Ethical and Therapeutic Challenges of a Rare Disability: Hyperphagia and Other Behaviours in People with Prader-Willi Syndrome, Anthony Holland et al.

P056: Inpatient Day Centre in Pediatric Unit of Vilnius University Hospital Santaros Klinikos, Viktoras Sutkus et al.

P057: Population based data collection of Wilson’s Disease in England through a national rare disease register, Osob Mohamed et al.

P058: Health Related Quality Of Life After Surgical Repair Of Esophageal Atresia, Anna Rozensztrauch et al.

P059: 25 Year Retrospective on Congenital Diaphragmatic Hernia, Dawn Ireland et al.

P060: The use of patient reported experiences to develop local solutions for individuals with rare and low prevalence conditions in the West of Scotland, Martina Rodie et al.

P061: Patient and family experience of ATTR Amyloidosis: Results of two focus groups, David Rintell et al.

P062: NCARDRS: A population-based congenital anomaly and rare disease register for England, Mary Bythell et al.

P063: Screening for neuromuscular diseases: Patient organisations’ achievements in European Reference Networks, Teresinah Evangelista et al.

P064: Gene Therapy Medicinal Products (GTMPs) represent a paradigm shift in health care as they have great potential for preventing and treating rare diseases with high unmet medical need, Francesca Tomeo et al.

P065: Meeting unmet needs for Adenoid Cystic Carcinoma (ACC) research in the UK and beyond, Emma Kinloch et al.

P066: Quality of life in patients with autoimmune and cholestatic liver diseases: ongoing agenda in ERN RARE-LIVER NETWORK, Maciej K. Janik et al.

P067: Interdisciplinary Cystinosis Clinic Rosenheim – a treatment model for rare multiorgan diseases, Ulrike Treikauskas et al.

P068: A registries hub against data siloing (ERN Euro-NMD Registry), Teresinah Evangelista et al.

P069: A novel NIR spectroscopic qualitative method to monitor the diet compliance in PKU patients, Marco Vismara et al.

P070: Codification for Rare diseases: the RD-CODE project support to Member States and beyond, Sylvie Maiella et al.

P071: The ERN-Lung Registry Data Warehouse in the European Reference Network Respiratory Diseases, Holger Storf et al.

P072: The French Rare Diseases Network TETECOU: improving diagnosis and healthcare, promoting education and supporting research for head, neck and tooth malformations, Myriam de Chalendar et al.

P073: NF Kinder Center of expertise, Claas Röhl et al.

P074: Interface management concepts in the health care for rare diseases in Germany: A mixed-methods study to develop best practice recommendations, David Zybarth et al.

P076: Health education competence and rare disorders – an online and collaborative academic course on bachelor-level, Christoffer Hals et al.

P077: Knowledge travels, not trainees and trainers: joint webinar series of EAN, ERN EuroNMD and ERN-RND, Sanja Hermanns et al.

P078: National Program Area – Rare diseases: Promoting and enabling knowledge-based, equal and resource-efficient healthcare for rare diseases in Sweden, Anna Wedell et al.

P079: eUROGEN Share, care, cure. ERN for urorectogenital diseases and conditions, Michelle Battye et al.

P080: ERN-EuroBloodNet- Establishment of the European Network of Sickle Cell Disease Patients Organizations, Mariangela Pellegrini et al.

P081: ENROL, the European Rare Blood Disorders Platform, Victoria Gutiérrez Valle et al.

P082: ERKNET, The European Rare Kidney Disease Reference Network, Vera Cornelius et al.

P083: Living Well with Phenylketonuria (PKU) – the Irish PKU Community Perspective, Bernadette Gilroy et al.

P084: An e-Learning program dedicated to Rare Eye Diseases in Europe, an ERN-EYE initiative, Dorothee Leroux et al.

P085: EDS ECHO: Worldwide, Case-based Learning And Support For Clinicians Managing Ehlers-Danlos Syndromes, Alan Hakim et al.

P086: How can patient representatives help realize the ERN’s objective: Access to expertise and best knowledge-based care for all Rare Disease patients in Europe? Astri Arnesen et al.

P087: Centralised Efforts Transforming Global Care: The Ten-Year Impact of a Patient Advocacy Group – Medical Expert Partnership on Recognising and Treating a Rare and Complex Epileptic Brain Malformation Syndrome, Emma Nott et al.

P088: The Rare and Complex Epilepsies – Common Unmet Needs within the Patient Community, Allison Watson et al.

P090: How are patients with rare diseases and their carers impacted by the way care is coordinated in the UK? An exploratory qualitative interview study, Amy Simpson et al.

P092: Identifying Research Priorities – Rare Disease Research Partnership (RAinDRoP), Suja Somanadhan et al.

P093: Expanding the availability of radioligand therapy to meet the treatment needs of people with neuroendocrine neoplasms, Christine Merkel et al.

P094: A Patient Perspective on Aortic Disease, Timo Söderlund et al.

P096: Economic Burden of Care and Treatment Options for Patients with Rett Syndrome: Two Systematic Literature Reviews, Omar Dabbous et al.

P097: “Nobody could understand what was wrong with me”, Kerstin Hamberg Levedahl et al.

P098: The JOURNEY of living with a RARE DISEASE in 2030 MetabERN: how we share, how we care, Maurizio Scarpa.

P100: The Collaboration on Rare Diseases (CORD-MI): A National Initiative to Improve the Documentation and Joint Use of Rare Disease Data in German University Hospitals, Josef Schepers.

P101: What ways of coordinating care for rare conditions currently exist and are possible? Exploring models of care coordination and stakeholder preferences, Holly Walton et al.

P102: Bridging the Expertise Gap in HHT Emergency Care, Mildred Lundgren et al.

P103: Impairment of Vitamin E intestinal secretion in primary hypobetalipoproteinemias: mechanistics studies in a cell model, Claire Bordat et al.

P104: Aromatic-L-amino acid decarboxylase (AADC) deficiency: What is it and how is it diagnosed?, Sian O´Niell

P105: Nationally coordinated Whole Genome Sequencing of individuals with a suspected rare genetic disease, Lovisa Lovmar et al.

P106: The International Network on Rare Skin Diseases for Professionals and Patients, May El-Hachem et al.

P107: The French national registry for rare diseases: a whole rare disease registry at national level meeting challenges at EU level, Claude Messiaen et al.

P108: New ERN GENTURIS guidelines on heritable TP53-related cancer syndrome and PTEN hamartoma tumour syndrome, Matt Bolz-Johnson et al.

P109: The “Patient Journey” for children with Neurofibromatosis Type 1: improving care by patients involvement, Claas Röhl et al.

P110: How my ERN improves my healthcare, Susana Carvajal et al.

P111: Rare disease and Genomic educational needs of UK General practitioners, Will Evans et al.

P112: ERN-Skin: How to improve health through highly specialised HCP for rare or low prevalence complex skin & mucous membrane disorders, Christine Bodemer et al.

P113: ERN-RND – Care standards for rare neurological diseases, Carola Reinhard et al.

P116: Global disease registry for neuronopathic GD, Tanya Collin-Histed et al.

P118: Elevator Pitch as Targets Communication Tools for Rare Conditions, Matt Bolz-Johnson et al.

P119: Patient Journey Common Needs: Rare congenital malformations + syndromes with intellectual and other neurodevelopment disorders, Ammi Sundqvist et al.

P120: Complement as the Enabler of Carfilzomib Induced Thrombotic Microangiopathy, Miquel Blasco et al.

P121: Patient Journey Cutis Marmorata Teleangiectatica Congenita (CMTC), Lex van der Heijden et al.

P122: Patient Journey Congenital Melanocytic Naevus Syndrome, Marjolein van Kessel.

P278: Unmet Needs of Rare Disease Patients during the COVID-19 Pandemic, Dominique Sturz et al.

P124: From research to practice: distal myopathy patients’ HRQoL and their need for assistance and care, Yukiko Nishimura et al.

P125: Rare Disease Research: The Importance of Precision Medicine and Real-World Data (RWD), Femida Gwadry-Sridhar et al.

P127: Patients’ impressions of a clinical study/clinical trial and factors contributing to the impressions: A questionnaire study, Shun Emoto et al.

P128: Orphan medicinal products for the treatment of pancreatic cancer, Jorn Mulder et al.

P129: The specificity of collecting Patient-Reported Outcome Measures by “patient-driven” registries for rare diseases vs “doctor-driven” using the example of the Ukrainian Registry for Spinal Muscular Atrophy, Vitaliy Matyushenko et al.

P130: Creating systematic and meaningful partnerships with the spinal muscular atrophy (SMA) community for therapy development, Fani Petridis et al.

P131: Burden of Illness and Quality of Life Among Patients with Tuberous Sclerosis Complex: Assessed as Part of the International TOSCA study, Federica Castiglione et al.

P132: Half a century of medical and social data on hemophilia in the Netherlands, 1971 – 2020, Cees Smit et al.

P133: Innovation In Patient Engagement: Examples Of Enhanced Patient Engagement Efforts In The Pharmaceutical Industry, Cláudia Hirawat.

P134: Families and professionals united to tackle the therapeutic needs of Congenital Disorders of Glycosylation, Carlota Pascoal et al.

P135: CML Patients’ Views on Psychological Support Throughout the Treatment-Free Remission Journey, Giora Sharf et al.

P138: Molecular markers for tracking skeletal muscle function in Duchenne Muscular Dystrophy, Camilla Johansson et al.

P140: Insights into Generalized Pustular Psoriasis (GPP) Using Real-World Data, Ana Hernandez et al.

P141: Meeting challenges in evaluating and measuring functioning in rare diseases: a collaboration between Orphanet and Mapi Research Trust, Gavin McDonough et al.

P142: How to Expedite the Drug Development Process in the EU, the US and Japan, Terese Johansson et al.

P143: Fondazione Telethon meets the Patients’ Associations needs through the development of a “Seed Grant”, Alessandra Camerini et al.

P144: Patients’ view on the unmet need in endocrine medical research, Johan de Graaf et al.

P145: An integrated patient-centric development plan, when applied to rare and orphan medicinal products (OMPs), can accelerate time to market by 12 to 36 months, Maryna Kolochavina et al.

P146: New approach of medical care in diabetes insipidus, Suzie Buono et al.

P147: Management of daily ANCA-associated vasculitis (AAV) self-care needs: A suite of new online resources, Dijana Krafcsik et al.

P148: Incorporating Patient Voice into Real-World Evidence Generation in Canadian Neuromuscular Disease Registry, Linh Vu et al.

P149: TRAZELGA Project: Preliminary results of the prospective national-base multicenter study to standardize the follow-up of type 1 Gaucher disease patients treated with Eliglustat, Irene Serrano Gonzalo et al.

P151: EPTRI – European Paediatric Translational Research Infrastructure: accelerating the future of the paediatric research, Donato Bonifazi et al.

P152: Worldwide Cystinosis Community Advisory Board, Denise Dunne et al.

P153: The estimation of health state utility values in rare diseases: overview of the existing techniques, Michela Meregaglia et al.

P154: Using PROMs in HTA for Rare Disease Treatments, Amanda Whittal et al.

P155: Antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: update of prospective data from a Multidisciplinary group, Fabiana Agostini et al.

P157: The Cystic Fibrosis Community Advisory Board (CF-CAB) – how we measure our successes, Marja Nell et al.

P158: The Value of Patient Engagement in Research Design: The EURORDIS Patient-Led Community Community Advisory Boards (CABs), Rob Camp et al.

P159: Priorities for research in primary mitochondrial disease: patients’ and clinicians’ Top 10, Amy Hunter et al.

P160: Co-Creation from the Get-Go – Understand the Known and Unknown needs, Lasse Funch Jacobsen et al.

P161: How to welcome visually impaired people to the hospital? ERN-EYE Educational video for healthcare professionals, Claire Edel.

P162: Expert advice to improve clinical trials: from TACT to ACT, Joanne Lee et al.

P163: The first effective treatment for AKU: A collaborative, patient centric effort, Ciarán Scott et al.

P164: European Network for a rare eye disease: ANIRIDIA-NET, Ivana Kildsgaard et al.

P165: The patient’s view on Respiratory Health in Duchenne Muscular Dystrophy (DMD)– Key learnings from a qualitative study led by Santhera Pharmaceuticals, Vanessa dos Reis Ferreira.

P166: Partnerships with Patient Advocacy Groups (PAGs) to advance Clinical development: Spotlight to Duchenne Muscular Dystrophy (DMD), Vanessa dos Reis Ferreira.

P167: The MPS VII Disease Monitoring Program (DMP) is a novel, longitudinal, cohort program with rigor beyond a traditional registry, Deborah Marsden et al.

P168: Treatabolome: a rare diseases treatment awareness project, Antonio Atalaia et al.

P170: The internet platform EXABO – from beta to full version, Désirée Walther et al.

P171: Targeting β2-adrenergic receptors as a new strategy for von Hippel-Lindau disease, Angel M Cuesta et al.

P172: How to define the value of orphan drugs? A comparative analysis of value assessment frameworks across Europe (EUROVAF), Alessandra Blonda et al.

P173: Project HERCULES: The Challenges of Estimating Multi-State Model Transitions in Rare Diseases: Creating a Natural History Model for Duchenne Muscular Dystrophy (DMD), Jonathan Broomfield et al.

P177: The comprehensive musculoskeletal post-acute ICF core set as a tool to formulate a questionnaire and internally consistent sum variables describing people with skeletal dysplasia, Hanna Hyvönen et al.

P179: Managing clinical and economic uncertainty in the value assessment of innovative gene and cell therapies – adjustments to health technology assessments and innovative payment models, Darren Callanan et al.

P180: How accessible are orphan medicinal products in Slovakia?, Tatiana Foltanova et al.

P181: Propranolol, an accessible, affordable, and available orphan drug for the von Hippel-Lindau disease, Luisa Maria Botella Cubells.

P182: Methodological Quality of Budget Impact Analyses for Orphan Drugs: An Updated Review, Abdallah Khadidja et al.

P183: Driving patient access for treatments targeting rare genetic disorders in the Middle East, Ciaran Cassidy et al.

P184: A 20th anniversary analysis of the EU OMP Regulation: achievements and future outlooks, Vittoria Carraro.

P185: The Impact of Country Specific Methods of Appraising Rare Disease Treatments, Amanda Whittal et al.

P186: Delivering the patient voice: XLH and the NICE HST appraisal process, Lindsay Weaver et al.

P187: China Rare Disease Drug Accessibility Report 2019, Kevin Huang et al.

P188: Health-related quality of life (HRQoL) and economic burden of Duchenne Muscular Dystrophy (DMD): a systematic literature review, Annika Bergman et al.

P189: Estimating the broader fiscal impact of rare diseases using a public economic framework: A case study applied to acute hepatic porphyria (AHP), Mark Connolly et al.

P190: Estimating the broader fiscal impact of rare diseases using a public economic framework: A case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis, Mark Connolly et al.

P193: Economic Burden of Epidermolysis Bullosa: Evidence from Ireland, Sinead Hickey et al.

 

P194: The European Cystic Fibrosis Society Patient Registry’s Data Quality programme, Andreas Jung et al.

P195: Evidence of content validity of the Duchenne video assessment scorecards from a Delphi panel study, Marielle Contesse et al.

P196: PROvide: Video based Patient Reported Outcomes for Sanfilippo Disease: a new and innovative approach to record and measure disease post gene therapy, Elin Haf Davies et al.

P198: Mapping layperson medical terminology into the Human Phenotype Ontology using Neural Network models, Enrico Manzini et al.

P199: Can wearable sensor technology support a paradigm shift in paediatric rare disease research?, Cécile Ollivier et al.

P200: Development of SIBS-online: an internet-based group intervention for siblings and parents of children with rare disorders, Torun Marie Vatne et al.

P201: Global semantic interoperability a tool to ensure full participation in society, Rob Braamburg et al.

P202: Virtual Reality: An Innovative approach to sharing learnings with Health Care Professionals on Cytokine Release Syndrome and neurological events after Chimeric Antigen Receptor T Cell Therapy (CAR-T) Infusion, Simona Paratore.

P203: Establishing the first pan-European Registry for Rare Bone and Mineral Disorders, Marina Mordenti et al.

P204: Establishing a registry on rare congenital malformations in Germany, Andrea Schmedding et al.

P205: Application of a digital monitoring platform to track severity and progression in Huntingdon’s disease, Florian Lipsmeier et al.

P206: Just how rare are rare diseases on Ada, a medical symptom checker?, Vanessa Lemarié et al.

P207: SAVE – An online tool to improve diagnosis and therapy of patients with cystinosis as an exemplary approach for rare diseases, Jessica Vasseure et al.

P208: Empowering families through technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem), Petrus J. de Vries et al.

P209: Patient Knowledge Extraction and Representation from Unlabeled Social Posts, Giacomo Frisoni et al.

P210: Share4Rare: a collaborative platform for rare diseases, Sara Hernández-Ortega et al.

P211: A global gateway to a lasting legacy – harnessing digital communications to empower patients to share their experiences to progress research and treatment, Angela Wilson et al.

P212: Clinical Patient Management System and ERN-EYE – solving rare eye diseases complex cases, Agnė Kručaitė et al.

P213: The French national registry for rare diseases: feedback from a FAIRification process, Angin Céline et al.

P214: ORPHAcoding RD Patients in a Rare Disease Centre – The Tübingen Solution, Holm Graessner et al.

P215: Beliefs of people with a rare disease about how active a role they can play when consulting a specialist, Katlijn Sanctorum et al.

P216: Preliminary Evaluation of a mHealth Coaching Conversational Artificial Intelligence (AI) for the Self-Care Management of People with Sickle-Cell Disease (SCD), David-Zacharie Issom et al.

P217: Social media training by patient organisations for patient organisations, Britta Berglund et al.

P218: A Data Analytics Approach to Rare Disease Discovery, Kenneth Lieberman et al.

P279: E-health & Rare Diseases Co-design Workshop: From Idea To Innovative Project Realization : Bringing The Co-construction Process To Life, Anne-Sophie Yribarren et al.