Posters

Below is a list of the posters that were selected by the Poster Committee to be presented at ECRD 2020. You can find an electronic version of the posters by clicking on the theme title to reveal all of the posters within that theme.

Theme 1:
The future of diagnosis: new hopes, promises and challenges


Reports on combined and novel approaches to diagnosis in a research and/or clinical settings (including for e.g. basic science type of research and/or the use of new technologies).

Examples of using AI and/or digital technologies to advance and speed up access to diagnosis.

Improving the experiences of genetic counselling

Examples of novel methods such as co-production in diagnosis research and care

Ethical and societal aspects of a diagnosis for all

Examples of advances in Newborn screening programmes

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.

Theme 2:
Our values, our rights, our future: shifting paradigms towards inclusion


Examples of policies and practices put in place to avoid discrimination and ensure inclusion of persons living with a rare disease in education, employment, leisure and support services;Cases of application of articles of internationally agreed frameworks/international law (e.g. Convention on Human Rights, Convention on the Rights of Persons with Disabilities) in favour of persons living with a rare disease in local, national and regional settings;

Information and statistical data (including surveys, censuses, administrative data, literature, reports, and studies) related to the exercise of the right to health of persons living with a rare disease; with particular emphasis on comparative studies across the EU or the new EU member states (EU13);

Examples of implementation of patient’s rights in cross-border care across Europe (good practices and policies, pilot projects at local, national and regional level);

Examples of social security schemes and welfare systems that address the specific needs of persons living with a rare disease;

Examples of and studies on involvement of persons living with a rare disease and their representative organisations in the design, planning, implementation and evaluation of health and social policies, programmes and services;

Innovative services, policies or practices to implement integrated care for people living with a rare disease.

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.

Theme 3:
Share, Care, Rare: Transforming care for rare diseases by 2030


We invite leaders in the field of rare diseases and highly specialised healthcare to showcase promising innovations and best practices that have the potential to redesign the way our healthcare is being delivered. For example, have you led or experienced the step-wise evolution or game-changer in how care for rare diseases is being delivered or organised in your hospital or health system, perhaps beyond our understanding of the traditional healthcare system?Have the needs of your rare disease or area of specialisation changed due to the introduction or access to new evidence-based care, innovation or technology?

ePAG patient advocates as well clinicians involved in the European Reference Networks are invited to present their good practices and initiatives in this area.

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.

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.

Theme 4:
When therapies meet the needs: enabling a patient-centric approach to therapeutic development


Patients as innovators/entrepreneurs in therapeutic development;Disruptive innovation in clinical research;

Knowledge generation through Real World Evidence collection;

Innovative approaches in repurposing (i.e therapies available, accessible and affordable to patients);

Disregarded diseases: development in yet unexplored medical areas;

Alternative business models for therapies development in rare diseases;

Sustainable patient engagement.

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.

Theme 5:
Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease


Socioeconomic burden of rare diseases (individual disease or cumulative)Evaluation of incentives regulation(s) – in particular for orphan drugs and paediatric medicines

New approaches to medicines price setting

Examples of cross country collaboration on assessment / procurement of therapies

Alternative model of R&D for rare diseases

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.

 

Theme 6:
The digital health revolution: hype vs. reality


Examples of how technology (e.g. artificial intelligence) is influencing the management of rare diseases in areas such as patient care, monitoring and development of therapies/products;Examples of innovative legal and ethical solutions for data collection and governance;

Examples of how patients have co-created new innovation and technology;

Reports or examples of international patient data collection/connection;

Technology examples that are inclusive and accessible for people with rare diseases;

Examples of initiatives that:

  • allow patients to collect or report their own data
  • enable a quicker/more accurate diagnosis
  • provide a positive impact on the daily lives/quality of life of patients and their carers through technology
  • allow patients to connect with others patients

help to reach more patients, especially those who live in areas where there is no or little infrastructure for rare diseases

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.

 

Theme 7:
Rare Disease Patient Groups Innovations


Innovative strategies/approaches/services or projects which could potentially be useful to other patient groups/healthcare professionals/academia or which deserve to be promoted internationally and recognised by national and European authorities.

P219: Rare Disease Day Activity in Japan – Social awareness campaign by various organizers, Yukiko Nishimura et al.

P220: Planet 5P Project. A Cri Du Chat Syndrome Global Community, Cristina Bel Fenellós et al.

P221: Developing Rare Resources for Scotland: Utilising methods of co-production to meet the information needs of people with rare, genetic or undiagnosed conditions and the health professionals involved in their care, Natalie Frankish.

P222: Improving communication about clinical trials in Cystic Fibrosis: a starting point for plain language summaries, Hilde De Keyser et al.

P223: Setting up an infra-structure of healthcare for Alkaptonuria in Germany by dissemination and networking, Leona Wagner et al.

P224: The use of social media to create a foundation and drive research on rare diseases, Ann Persson et al.

P225: When Lightning Strikes Twice, Differently, Christine Mutena.

P227: CML Patients Advocates Network implementation of the Community Advisory Board (CAB) Model, Celia Marín.

P228: Essential Requirements for Uveal Melanoma Guidelines- learnings from the first MPNE patient consensus meeting, Bettina Ryll.

P230: Development of an App for the management of Autoinflammatory Diseases using an innovative patients-clinicians codesign approach, Ruggero Di Maulo et al.

P231: Project HERCULES: Overcoming the Health Technology Assessment hurdle through patient led collaboration, Emily Crossley et al.

P232: Consistent follower engagement on social media can grow your audience and raise awareness of rare diseases, Lucy McKay et al.

P233: Improving patient communication and education using POC (Point of Care) Channel, Xavier Lleixà et al.

P234: CIBERER experience: Giving Patients a Seat at the Table, Beatriz Gomez Gonzales et al.

P235: Building a set of training resources to help rare disease patient groups form, grow, and maximize their impact, Mary Rose Roberts et al.

P236: Lympho-logical thinking in self management of primary lymphoedema and other rare diseases involving lymphoedema, Margareta Haag et al.

P237: Blood – Brain Barrier Permeabilization with Engineered Tumor Necrosis Factor-α followed by R-CHOP as Salvage Therapy in Primary CNS Lymphoma, Andrés J.M. Ferreri et al.

P238: Fostering the integration of European Reference Networks into National Health Systems: the creation of ePAG Italia, Diana Marinello et al.

P239: EFAPH: European umbrella for better care of hemochromatosis patients in the world, Mária Ábele et al.

P241: Topical Approaches And Therapeutic Strategies For Epistaxis in Hereditary Hemorrhagic Telangiectasia: Personal Experience, Mariaconsiglia Santantonio et al.

P242: Empowering people with rare diseases, Nataliya Grigorova et al.

P243: USUALL: Childfriendly Design for Assisitive Devices, Laura Koot et al.

P244: Hereditary Spastic Paraplegia 15, Carina Thurgood et al.

P245: Karolinska Center for Rare Diseases – For Improved Care of Patients with Rare Diseases, Rula Zain et al.

P247: Real-World Treatment Patterns and Outcomes in Patients with Spinal Muscular Atrophy Collected From the RESTORE Registry, Marcus Droege et al.

P248: Connect-ADSL: a worldwide patient-centered experience as a key for expanding medical knowledge in Adenylosuccinate lyase deficiency (ADSL), Gerarda Mastrogiorgio et al.

P249: “Let’s do this together” – healthcare development driven by patient advocates and healthcare professionals, Karin Högvall et al.

P250: Help yourself! – rare tips for better meetings with the healthcare system, Stephanie Juran et al.

P251: Cystinosis Network Europe, Anne Marie O’Dowd.

P252: Establishing an Online Learning Platform on Rare Disorders – Sjelden.no, Elisabeth Bækken.

P253: Stories are not just for bedtime, Sondra Butterworth et al.

P254: Fondazione Alessandra Bisceglia as a search engine for Vascular Anomalies, Cosmoferruccio De Stefano et al.

P255: Rare Diseases Denmark Helpline, Birthe Byskov Holm et al.

P256: Facebook as a tool for raising awareness of rare diseases: the experience of Orphanet-Italy, Michele Nutini et al.

P257: INTRODUCTION RARE DISEASES – a web-based course for professionals who meet PLWRD and their families, Veronica Wingstedt de Flon et al.

P258: Educational consequences of rare conditions – development of an observation instrument, Gunilla Jaeger et al.

P259: The Italian Registry for Angelman Sindrome (RISA): an innovative patient-driven initiative in a rare neurological condition genetically determined, Pier Luigi Carriero et al.

P260: Sibling cards as a tool for supporting siblings, Katri Lehmuskoski.

P262: What do caregivers of persons with rare, epilepsy-related conditions need to know?, Merete Kristin Tschamper et al.

P263: What is MCT8 Deficiency (Allan Herndon Dudley Syndrome)?, Veronica Popa et al.

P265: Innovative Summer Camp for people with NMD, Jana Popova.

P267: ‘Patient Journeys’ : Personal experiences shaping clinical priorities, Olivia Spivack et al.

P268: Quality of life (QoL) for people with rare diseases: Recruitment challenges and consequences in a study pilot-testing a provisional QoL tool for people with primary sclerosing cholangitis (PSC) in the UK, Elena Marcus et al.

P269: Public and Patient Involvement in Vision Research – A Multi-Stakeholder Workshop, Karen Lester et al.

P270: Economy of perception – how to gain focus on rare issues in the information-rich world, Tomasz Grybek et al.

P272: Mental health care as a vital part in the holistic care for patients and families with rare diseases, Vesna Aleksovska et al.

P273: Impact of Inherited Retinal Disease in the Republic of Ireland and the United Kingdom, Orla Galvin et al.

P276: Actions & vision of the Cyprus Association of Inherited Metabolic Diseases ‘ASPIDA ZOIS’, Marios Vakanas.

 

 

 

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