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Summary of Edition of 31 October 2018

10 countries with the goal of sequencing at least 100,000 genomes

Survey on the evaluation of the European regulation concerning orphan medicinal products

European collaboration on e-health and cross-border care

Orphanet publishes its 2017 Activity Report

ERN GUARD-Heart: Cross-border and uniform patient care pathways

ERN-LUNG: Webinar on how to set up a Clinical Trials Network (CTN)

ERN-EYE: A press release for the workshop dedicated to genetic testing

ERN Paedcan: A discussion with EU Commissioner for Health and Food Safety, Vytenis Andriukaitis

Endo-ERN: Successful audit for seven Reference centres

MetabERN: The ERN launched the patient-centred research tool

USA: 5 Additions to the Undiagnosed Diseases Network

USA: Introduction of Rare Disease Fund Act

USA: Food and Drug Administration (FDA) awards 12 new grants for the development of rare disease medical products

Cases of acute flaccid paralysis in the United States

India’s first centre for children with neuromuscular diseases

5-year collaboration planned between St. Jude Children’s Research Hospital and World Health Organization

Australia: Extension of the Fair for Rare campaign

Shire opens $1 billion plasma fractionation plant

Report of the 2018 annual face-to-face meeting of Enpr-EMA members and the Enpr-EMA Coordinating Group

A call to protect the European Reference Networks

Brexit addressed in the European Parliament

Four additional European countries to sign the Genomics Declaration

Open consultation on the investigation of medicinal products in the term and preterm neonate

New Chair for the Committee for Medicinal Products for Human Use (CHMP)

New version of the website of the European Medicines Agency (EMA)

Update on EMA progress concerning preparations for Brexit

European Commission and EMA joint action plan for the development of medicines for children in Europe

Ten years of European action against rare cancers

Huge Big Data programme launched by UK National Health System

AEGLE project reports on the process of health data after the adoption of the GDPR

Medical image synthesis for data augmentation and anonymisation using Generative Adversarial Networks

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

HerGePred: Heterogeneous network embedding representation for disease gene prediction

Epilepsyecosystem.org: crowd-sourcing reproducible seizure prediction with long-term human intracranial EEG

Creating datasets and cleaning existing data identifiers in a cystic fibrosis registry using probabilistic approach from

USA: NORD receives grant from Anthem Foundation for expansion of Rare Disease Database

A practical guide from the Medical Research Charities Group to set up a rare disease patient registry

Italy: 6-year experience from the hospital-based Italian Mastocytosis Registry

The Glomerular Disease Study and Trial Consortium: A grassroots initiative to foster collaboration and innovation

Estimated costs of pivotal trials for novel therapeutic agents approved by the FDA from 2015 to 2016

Direct healthcare costs for children diagnosed with genetic diseases are significantly higher than for children with

Disease and economic burden for rare diseases in Taiwan: a longitudinal study using Taiwan’s National Health Insurance

Leveraging EUnetHTA’s conceptual framework to compare HTA decision drivers in France, Italy, and Germany from a

Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors

Attitudes to prenatal screening among Norwegian citizens: liberality, ambivalence and sensitivity

Innovative study designs optimising clinical pharmacology research in infants and children

The path to perfect pediatric posology: drug development in pediatrics

A case study of an adaptive design for a clinical trial in a rare disease area

“Quality in, quality out”: a stepwise approach to evidence-based medicine for rare diseases promoted by multiple

Clinical trials in children and adolescents with systemic lupus erythematosus

The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare

Design and endpoints for clinical trials in primary sclerosing cholangitis

Treatment of pustular psoriasis with anakinra: a statistical analysis plan for stage 1 of an adaptive two-staged

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

A systematic review on clinical significance in pediatric oncology randomised controlled treatment trials

Meeting highlights from the Committee for Medicinal Products for Human Use (CHMP) 17-20 September 2018

Expanded patient access to investigational new devices

Addressing the needs of Canadians with rare diseases: an evaluation of orphan drug incentives

Access to orphan drugs: a cross country comparison of legislative approach among Serbia, Croatia and Macedonia

Access to orphan drugs is a challenge for sustainable management of cystinosis in China

Rare genetic diseases with defects in DNA repair: opportunities and challenges in orphan drug development for targeted

Retrospective analysis of dose-finding studies among orphan drugs approved in the EU

Orphan drug designations in ophthalmology

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the French Muscular Dystrophy Association (AFM).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Agathe Franck
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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