8th European Conference on Rare Diseases & Orphan Products (ECRD 2016)

Abstract

Table of contentsO1 The European Social Preferences Measurement (ESPM) study project: social cost value analysis, budget impact, commercial life cycle revenue management, and the economics of biopharmaceutical Research & Development (R&D)Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry TelserO2 Newborn Screening: the potential and the challengesJames R BonhamO3 Untreatable disease outcomes - how would we measure them?Helmut Hintner, Anja Diem, Martin LaimerO4 Taking Integrated Care Forward: Experiences from Canada to inspire service provision for people living with rare disease in EuropeRéjean HébertO5 Listening to the patient’s voice: social media listening for safety and benefits in rare diseasesNabarun Dasgupta, Carrie E. Pierce, Melissa JordanO6 Via Opta: Mobile apps making visually impaired patients’ lives easier Barbara Bori, Mohanad Fors, Emilie PrazakovaO7 A report of the IRDiRC “Small Population Clinical Trial” Task ForceSimon DayO8 HAE patient identification and diagnosis: An innovative, ‘game changing’ collaborationThomas J. Croce Jr.O9 Co-creating with the community: primary packaging & administration for people with haemophiliaJonas Fransson, Philip WoodO10 Go with Gaucher, taking forward the next generation. How to involve young people to create a new generation of patient advocatesAnne-Grethe Lauridsen, Joanne Higgs, Vesna Stojmirova AleksovskaP1 ODAK – Orphan Drug for Acanthamoeba KeratitisChristina Olsen, Ritchie Head, Antonio Asero, Vincenzo Papa, Christa van Kan, Loic Favennec, Silvana Venturella, Michela Salvador, Alan KrolP5 Rare Navigators help people living with rare diseases to manage the social – and healthcare systems Stephanie J. Nielsen, Birthe B. HolmP6 The eAcademy for Tay-Sachs & Sandhoff disease appDaniel Lewi, Patricia DurãoP10 The role of a patient organisation in driving the research agenda in a rare diseaseHeather Band, Andrea WestP13 Expertise for rare diseases mappedMarinda J.A. Hammann, Marije C. Effing-Boele, Hanka K. DekkerP14 The hidden costs of rare diseases: a feasibility studyAmy Hunter, Amy SimpsonP15 FDA’s new natural history grant program: support to build a solid foundation for development of products for rare diseasesGumei Liu, Katherine Needleman, Debra Lewis, Gayatri RaoP17 Understanding the wider impact of adrenal insufficiency: patient organisation involvement in the TAIN projectAmy Simpson, Amy Hunter, Martin J WhitakerP20 Bridging the gaps between medical and social care for people living with a rare diseaseRaquel Castro

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study

“…In the United Kingdom (UK), coordinated care for patients with rare conditions is provided in different ways such as through specialist centres, care coordinators, multi-disciplinary teams, care plans and 'one-stop-shops'/ residential clinics where patients can access a range of services during one hospital visit [2]. However, services are not delivered in the same way across the country and experiences can depend on the condition, patients' age, and their location [2][3][4] and many rare disease patients are not aware of or do not access a specialist centre [4].…”

“…Limited research suggests that there may be both financial and non-financial 'hidden' impacts for patients and their families, associated with how care is coordinated [2,3]. A range of challenges related to how care is managed have been identified including: (a) psychological and emotional challenges resulting from high turnover of healthcare professionals and a lack of information and knowledge amongst professionals [10], (b) stress and financial concerns for parents due to the burden associated with planning and coordinating care to meet the unique needs of their children [11] and, (c) a substantial time burden for patients and carers, in part, because of coordinating their care [12].…”

“…So, while care coordination is considered important for patients with rare conditions, there is a lack of research which addresses care coordination in the context of rare conditions [1]. More specifically, there is a dearth of evidence on the impact of different approaches to care coordination for such patient groups [14] including the impact on patients and their families [2,3]. It has also been noted that where research does exist, it tends to be condition specific, and there is a lack of qualitative research which addresses the shared experience of those with rare conditions [10].…”

Burden of Mendelian disorders in a large Middle Eastern biobank

“…Despite the increasing use of NGS technologies, the diagnostic yield of Mendelian disorders remains low, partially due to the rarity of these conditions and the difficulty of identifying causal pathogenic variants from the large numbers of other private variants detectable in an individual’s genome and interpreting their functional impact. Traditionally, family-based segregation analysis has been useful in identifying pathogenic variants; nevertheless, it requires genomic annotation at population level which increasingly made available from global genomic consortia on rare diseases as well as unaffected subjects [ 5 , 6 , 11 – 14 ]. Despite the success of these global efforts, they remain limited in terms of ancestral representation from non-European populations such as Middle Eastern, South Asian, and African [ 15 , 16 ].…”

Keeping the Person in Personalised Healthcare

“…The specific field of medical innovation offers a rich display of such conflicts - with controversies over high-profile issues such as the direction of research and how to incentivise it, the morality of medicine pricing systems and practices, the ever-multiplying options for gathering and exploiting health-related data, or the adequacy of regulatory controls [17]. …”