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Summary of Edition of 15 February 2019

Rare Disease Day 2019 - #ShowYourRare

New set of terms for rare eye diseases included in ORDO and HPO

New Emergency Guidelines for cystic fibrosis and phenylketonuria in Spanish

ERN launches app for vascular rare diseases patients

ERN-RD’s new diagnostic flowchart for Atypical Parkinsonism and genetic Parkinson's disease

ERN video for patients and healthcare professionals

New Duchenne guide for families

USA: Updated version of the draft guidance for common issues in drug development for rare diseases

New projects for research approved by EU Horizon 2020

RD-CODE Kick-off meeting

Rare 2030 foresight study launched to prepare a future European RD policy

European Commission: EXPH’s opinion on assessing the impact of digital transformation of health services.

EMA rejects the prescription of Lartruvo for patients with soft tissue cancer

EMA relocation news

EMA’s new 2018 Highlights report

Russian drug policy: recent positive changes although improvements still needed

Comparative study on the reimbursement of orphan drugs across EU countries

Analysis of trends and evidence in private payer coverage policies for exome sequencing

High cost and lengthy hospitalisation for patients with lymphoblastic leukaemia

A recent study finds that clinical costs for orphan drugs are lower than non-orphan drugs

Update on cystic fibrosis cost estimates

Evaluation of out-of-pocket spending on orphan drug prescriptions

Evaluation of the cost utility of Voretigene Neparvovec

Economic assessment prior to the introduction of screening for X-linked adrenoleukodystrophy (X-ALD) into an existing

Partnership opportunity for pharma industry in order to improve market access to rare disease therapies

ICER’s new project on assessment methods: Valuing A Cure

Social values, fairness and inclusion for budget decision-making: a criticism of economic evaluation theory

USA: Recommendation for the establishment of an independent entity to determine policy guidelines

Examination of the set of activities carried out before the development and funding of new drugs

Comparison of patients’ access to biotechnological drugs in Central and East European countries

Absence of randomised control trials for FDA approval of new drugs associated with more postmarketing safety-related

Orphan drug accessibility in China

New EMA guidelines on clinical investigation of recombinant and human plasma-derived factor VIII products

Necessity of improvement of awareness of and participation in cross-border international registries revealed

Establishment of a biobank of patient-derived pediatric brain tumours

The impact of registries with biobanks on the rare disease research field

Analysis of MEN1 patient's data: Study confirms the need to maintain large patient databases for rare diseases

Presentation and evolution of the French National Registry of patients with facioscapulohumeral muscular dystrophy

Benefits of drug repurposing in the new age of paediatric genomics and precision medicine

Causes and solutions for the low accrual of patients with Myelodysplastic Syndromes in clinical trials

Alliance effect on firms’ entry into new therapeutic areas as regards to clinical trials

Test and assessment of novel methods for small population studies for rare diseases drug development process

Lack of accuracy of computational tools as regards to the identification of coexisting genetic disorders

Update on OMIM.org content

DeepNEU: a machine learning platform for the development of artificially-induced pluripotent stem cells

Novel phenotype-based, machine learning system to assist diagnosis in clinical application

Disease gene knowledge map: a construction technology

The utility of phenomic correlations in mitochondrial disease and inherited metabolic disorders

Treatment options and availability of medications for hereditary angioedema

Novel instrument to evaluate the quality of life of mycosis fungoides (MF) or Sézary syndrome

Mapping of Radiology Gamuts Ontology entities to the Disease Ontology and the Human Phenotype Ontology

Review of the Foundation of the Newborn Screening Translational Research Network and its tools for research

Genetic analysis to confirm inborn errors of metabolism detected in newborn screening programs

New screening pilot programme for couples planning to have a baby

Dubai’s screening programme for early detection

Women’s experience, informed choice and non-invasive prenatal testing

Lessons learned from Niemann-Pick disease type C screening

A survey on patients with Cushing disease/syndrome needs reveals the significance of culture-specific differences for

Fatigue burden among patients with myelodysplastic syndrome, aplastic anemia, and paroxysmal nocturnal hemoglobinuria

Impact of sleep disordered breathing on patients with idiopathic pulmonary fibrosis

Disease burden of juvenile systemic sclerosis

Health-related quality of life impact of adding clarithromycin to bortezomib-cyclophosphamide-dexamethasone for the

SMArtCARE: an online platform for spinal muscular atrophy data collection

Possible use of telemedicine for patients with genetic forms of stroke or dementia

Childhood rare diseases: a family perspective regarding health utilities and disutilities

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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