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Kole A.,EURORDIS
Advances in Experimental Medicine and Biology | Year: 2010

Rare disease patients experience particular obstacles in accessing high quality healthcare. These obstacles include but are not limited to: (i) lack of scientific knowledge of their disease, (ii) lack of access to correct diagnosis, (iii) delays in diagnosis, (iv) lack of appropriate multidisciplinary healthcare, (v) lack of quality information and support at the time of diagnosis, (vi) undue social consequences, (vii) inequities and difficulties in access to treatment, rehabilitation and care, (viii) dissatisfaction with and loss of confidence in medical and social services, (ix) denied treatment by health professionals and (x) lack of availability of orphan drugs. Three surveys and their subsequent analysis, conducted by the European Organisation for Rare Diseases (EURORDIS), a non-governmental patient driven alliance of European patient organisations, demonstrate several of these obstacles by describing the experience of rare disease patients across 18 rare diseases and over 24 European countries as well as highlighting inequalities that exist between them. © Springer Science+Business Media B.V. 2010.


Le Cam Y.,EURORDIS
Expert Opinion on Orphan Drugs | Year: 2014

Six thousand to nine thousand different rare diseases according to different classifications have been identified to date and new conditions appear each month as reported in the scientific literature. Although each rare disease affects very few people, when all > 6000 diseases are taken collectively, 30 million people are affected in Europe alone. Each rare disease impacts not only the person suffering, but also entire families, communities, and our society as a whole. This is the paradox of rarity we face today. © 2014 Informa UK, Ltd.


Mora M.,Neuromuscular Diseases and Neuroimmunolgy Unit | Angelini C.,IRCCS Fondazione San Camillo Hospital | Angelini C.,University of Padua | Bignami F.,Glaxosmithkline | And 30 more authors.
European Journal of Human Genetics | Year: 2015

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003-2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and 'omics' data, thus challenging the fragmentation of international cooperation on the field. © 2015 Macmillan Publishers Limited All rights reserved.


Mascalzoni D.,Uppsala University | Mascalzoni D.,Center for Biomedicine | Dove E.S.,University of Montreal | Rubinstein Y.,U.S. National Institutes of Health | And 12 more authors.
European Journal of Human Genetics | Year: 2015

There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term value and exploit their potential for health discovery and validation. This is especially evident for rare disease research. Currently, the rising value of data and bio-specimen collections does not correspond with an equal increase in data/sample-sharing and data/sample access. Contradictory legal and ethical frameworks across national borders are obstacles to effective sharing: more specifically, the absence of an integrated model proves to be a major logistical obstruction. The Charter intends to amend the obstacle by providing both the ethical foundations on which data sharing should be based, as well as a general Material and Data Transfer Agreement (MTA/DTA). This Charter is the result of a careful negotiation of different stakeholders' interest and is built on earlier consensus documents and position statements, which provided the general international legal framework. Further to this, the Charter provides tools that may help accelerate sharing. The Charter has been formulated to serve as an enabling tool for effective and transparent data and bio-specimen sharing and the general MTA/DTA constitutes a mechanism to ensure uniformity of access across projects and countries, and may be regarded as a consistent basic agreement for addressing data and material sharing globally. The Charter is forward looking in terms of emerging issues from the perspective of a multi-stakeholder group, and where possible, provides strategies that may address these issues. © 2015 Macmillan Publishers Limited. All rights reserved.


Casali P.G.,Adult Mesenchymal Tumour Medical Oncology Unit | Bruzzi P.,Italian National Cancer Institute | Bogaerts J.,European Organization for Research and Treatment of Cancer EORTC | Blay J.-Y.,University of Lyon | And 49 more authors.
Annals of Oncology | Year: 2015

While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in clinical studies on rare cancers, as well as adaptive trials in general, with their inherent potential of flexibility when properly applied. While clinical studies are the mainstay to test hypotheses, the potential of electronic patient records should be exploited to generate new hypotheses, to create external controls for future studies (when internal controls are unpractical), to study effectiveness of new treatments in real conditions. Framework study protocols in specific rare cancers to stepwisely test sets of new agents, as from the early post-phase I development stage, should be encouraged. Also the compassionate and the off-label settings should be exploited to generate new evidence, and flexible regulatory innovations such as adaptive licensing could convey new agents early to rare cancer patients, while generating evidence. Though validation of surrogate end points is problematic in rare cancers, the use of an updated notion of tumor response may be of great value in the single patient to optimize the use of therapies, all the more the new ones. Disease-based communities, involving clinicians and patients, should be regularly consulted by regulatory bodies when setting their policies on drug approval and reimbursement in specific rare cancers . © The Author 2014. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

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