Rare Disease Day 2019 - #ShowYourRare
ReadSummary of Edition of 15 February 2019
Editorial
Political news
European News
New projects for research approved by EU Horizon 2020
ReadRD-CODE Kick-off meeting
ReadRare 2030 foresight study launched to prepare a future European RD policy
ReadEuropean Commission: EXPH’s opinion on assessing the impact of digital transformation of health services.
ReadEMA rejects the prescription of Lartruvo for patients with soft tissue cancer
ReadEMA relocation news
ReadEMA’s new 2018 Highlights report
ReadHealth Economics
Russian drug policy: recent positive changes although improvements still needed
ReadComparative study on the reimbursement of orphan drugs across EU countries
ReadAnalysis of trends and evidence in private payer coverage policies for exome sequencing
ReadHigh cost and lengthy hospitalisation for patients with lymphoblastic leukaemia
ReadA recent study finds that clinical costs for orphan drugs are lower than non-orphan drugs
ReadUpdate on cystic fibrosis cost estimates
ReadEvaluation of out-of-pocket spending on orphan drug prescriptions
ReadEvaluation of the cost utility of Voretigene Neparvovec
ReadEconomic assessment prior to the introduction of screening for X-linked adrenoleukodystrophy (X-ALD) into an existing
ReadPartnership opportunity for pharma industry in order to improve market access to rare disease therapies
ReadICER’s new project on assessment methods: Valuing A Cure
ReadSocial values, fairness and inclusion for budget decision-making: a criticism of economic evaluation theory
ReadUSA: Recommendation for the establishment of an independent entity to determine policy guidelines
ReadExamination of the set of activities carried out before the development and funding of new drugs
ReadComparison of patients’ access to biotechnological drugs in Central and East European countries
ReadAbsence of randomised control trials for FDA approval of new drugs associated with more postmarketing safety-related
ReadOrphan drug accessibility in China
ReadRegistries Databases and Biobanks
New EMA guidelines on clinical investigation of recombinant and human plasma-derived factor VIII products
ReadNecessity of improvement of awareness of and participation in cross-border international registries revealed
ReadEstablishment of a biobank of patient-derived pediatric brain tumours
ReadThe impact of registries with biobanks on the rare disease research field
ReadAnalysis of MEN1 patient's data: Study confirms the need to maintain large patient databases for rare diseases
ReadPresentation and evolution of the French National Registry of patients with facioscapulohumeral muscular dystrophy
ReadStudy Design
Benefits of drug repurposing in the new age of paediatric genomics and precision medicine
ReadCauses and solutions for the low accrual of patients with Myelodysplastic Syndromes in clinical trials
ReadAlliance effect on firms’ entry into new therapeutic areas as regards to clinical trials
ReadTest and assessment of novel methods for small population studies for rare diseases drug development process
ReadBioinformatics
Lack of accuracy of computational tools as regards to the identification of coexisting genetic disorders
ReadUpdate on OMIM.org content
ReadDeepNEU: a machine learning platform for the development of artificially-induced pluripotent stem cells
ReadNovel phenotype-based, machine learning system to assist diagnosis in clinical application
ReadDisease gene knowledge map: a construction technology
ReadThe utility of phenomic correlations in mitochondrial disease and inherited metabolic disorders
ReadTreatment options and availability of medications for hereditary angioedema
ReadNovel instrument to evaluate the quality of life of mycosis fungoides (MF) or Sézary syndrome
ReadData Management
Mapping of Radiology Gamuts Ontology entities to the Disease Ontology and the Human Phenotype Ontology
ReadScreening and Prenatal Diagnosis
Review of the Foundation of the Newborn Screening Translational Research Network and its tools for research
ReadGenetic analysis to confirm inborn errors of metabolism detected in newborn screening programs
ReadNew screening pilot programme for couples planning to have a baby
ReadDubai’s screening programme for early detection
ReadWomen’s experience, informed choice and non-invasive prenatal testing
ReadLessons learned from Niemann-Pick disease type C screening
ReadQuality of life
A survey on patients with Cushing disease/syndrome needs reveals the significance of culture-specific differences for
ReadFatigue burden among patients with myelodysplastic syndrome, aplastic anemia, and paroxysmal nocturnal hemoglobinuria
ReadImpact of sleep disordered breathing on patients with idiopathic pulmonary fibrosis
ReadDisease burden of juvenile systemic sclerosis
ReadHealth-related quality of life impact of adding clarithromycin to bortezomib-cyclophosphamide-dexamethasone for the
ReadSMArtCARE: an online platform for spinal muscular atrophy data collection
ReadPossible use of telemedicine for patients with genetic forms of stroke or dementia
ReadChildhood rare diseases: a family perspective regarding health utilities and disutilities
ReadScientific news
And also...
Credits
OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the European Commission through the pilot projet 'Rare 2030 - a participatory foresight study policy-making rare diseases' (PP-1-2-2018-Rare 2030).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Florent Simon
Editor for Scientific Content: Agathe Franck
Scientific monitoring: Hélène Jagline
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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo
ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Chyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), Birute Tumiene (Lithuania), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Mario Carreira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Sarah Stevens (UK)
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