OrphaNews will change its look in 2017! A more modern visual identity, adapted to reading on any medium, will appear in the next issue of the newsletter. In addition, a thesaurus will be available to allow searching by keywords in all the newsletters that have been already published.
These changes were made thanks to the support of AFM-Telethon.
The Commission Expert Group on Rare Diseases met on 28-29 November, 2016 in Luxembourg for the 8th time.
Click here to view the Flash Report.
The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.
Five years have passed since the initial launch of IRDiRC in 2011 and considerable advances have been made in rare diseases research. This conference presents a unique opportunity to reflect upon this progress, confront barriers, and together, form new collaborations to take on challenges posed by rare diseases. Past conferences were held in Dublin, Ireland and Shenzhen, China.
All stakeholders – investigators, policy makers, opinion leaders, critical thinkers, young researchers, patient advocates and industry alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients.
Registration for this conference will open shortly.
Date : 04 January 2017
At : Paris, France
An article published in European Journal of Human Genetics describes the peer-reviewed quality label of the International Rare Diseases Research Consortium (IRDiRC) named ‘IRDiRC Recognized Resources’, which was initially called ‘IRDiRC Recommended’. The article describes 13 resources that have been beneficiaries of this quality standard. These resources were chosen for the role in advancing the goals of IRDiRC. They resources chosen contribute towards specific features such as data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. According to the authors “widespread adoption by the community of such recognised resources is expected to facilitate the IRDiRC goal to enable the development of 200 new therapies by 2020.”
The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.
Five years have passed since the initial launch of IRDiRC in 2011 and considerable advances have been made in rare diseases research. This conference presents a unique opportunity to reflect upon this progress, confront barriers, and together, form new collaborations to take on challenges posed by rare diseases. Past conferences were held in Dublin, Ireland and Shenzhen, China.
All stakeholders – investigators, policy makers, opinion leaders, critical thinkers, young researchers, patient advocates and industry alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients.
Registration for this conference will open shortly.
A review published in Expert Opinion in Orphan Drugs presents the efforts of the Japanese government into rare disease research which they also call rare and intractable disease. eflects the current status of systems to research rare diseases in Japan. According to the authors the government is spending money on different facets of research to improve the understanding of rare disease through epidemiological studies, basic research, clinical research, and applied research. The article presents data on the epidemiological research, guidance documents, certification of hospitals and efforts to produce novel drugs for rare diseases.
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International Recommendations for Undiagnosed patients EURORDIS
Rare Diseases Europe, together with SWAN UK (the support group run by Genetic Alliance UK), the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases' stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.
Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. Such care should promote their chances of receiving an accurate diagnosis in as efficient and timely way as possible, while ensuring that, until a diagnosis is made, they nevertheless receive the best possible health and social care. These recommendations also highlight the importance of promoting ethical and responsible international data sharing to help inform a clinical diagnosis, accelerate research into novel conditions and provide insights into disease mechanisms. Furthermore, knowledge and information sharing among all stakeholders should be optimally coordinated and fostered so that patients can access appropriate resources in a timely and efficient manner.
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An article published European Journal of Human Genetics describes the work of European Board of Medical Genetics (EBMG) which helps “establish professional standards of education, training, and practice in human, and medical genetics and genetic counselling.”. They are also involved in building a system for professional registration, which was launched in 2013. The authors provide an overview of the progress since its launch and the challenges along with future directions.
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The priority review voucher (PRV) was conceived to encourage drug sponsors to produce treatments for “non-profitable” diseases, such as rare paediatric diseases, by giving them a voucher to receive expedited regulatory review of different, potentially more profitable drugs, as an incentive. Whether this incentive should be expanded more broadly to rare diseases and whether it has been successful has been addressed in an article published in Expert Opinion on Orphan Drugs. According to the authors the current system has been vulnerable to misuse and it interferes with the Food and Drug Administrations’ ability to set priorities based on public health needs. According to the authors, even though the incentive is “alluring” as it does not require additional budget earmarking, there are fundamental challenges which have to be addressed before broadening it to all rare diseases.
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A study published in PLOS One has analysed the profitability of companies producing orphan drugs in Europe and the United States. The study found that companies receiving marketing authorisation for orphan drugs were more profitable and had a higher return on assets, commanding a higher market value compared to non-orphan drug companies. According to authors, these companies receive many incentives due to the orphan drug legislation, spend lesser for research and development, have non-orphan indications and are priced at a level that is 6 times higher than non-orphan drugs. The authors believe that “that policies directed towards incentivising orphan drug development have worked to the extent that companies are profiting excessively.”
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The National Institute for Health and Care Excellence (NICE) recently issued a draft of the publication for ‘Highly Specialized Technologies’ guidance which has recommended Galafold (migalastat) for the treatment of Fabry disease. The draft migalastat it only when the company provides it with the confidential discount agreed in the patient access scheme and adds to currently approved indications. According to NICE’s although the clinical effectiveness evidence for migalastat was highly uncertain, the drug provides similar benefits to Enzyme Replacement Therapy at a lower cost and has other benefits such as ease of administering the treatment.
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The 6-minute walk distance (6MWD) has been used as an outcome measure in clinical trials for several Duchenne muscular dystrophy (DMD) treatments such as ataluren, drisapresen, eteplirsen. However, due to the large variability that is often observed in patients tested using 6MWD, an article published in Neuromuscular Disorders assessed whether boys with DMD could be grouped into classes that shared similar ambulatory function trajectories as measured by 6MWD. The authors tested boys with a confirmed diagnosis, above the age of 5 for a span of 3 years. According to the authors this study “demonstrate(s) that it is possible to reduce the high variability of 3-year change in 6MWD in DMD patients by approximately 40% over and above the 10–15% reduction provided by baseline age, 6MWD and steroid use.” They believe that “the natural history of ambulatory function in DMD may be composed of distinct trajectory classes.”
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