EURORDIS awards exceptional figures in the field of rare diseases
This year, at the 2nd Annual Black Pearl Gala dinner, organised by EURORDIS in Brussels at the Plaza Hotel, awards for “outstanding accomplishments in the field of rare diseases” were presented to stalwarts in the field of rare disease. These awards were presented on the eve of the 6th Rare Disease Day. All the recipients of the awards have been tireless in their pursuit to obtain rare disease patients the quality care they deserve. This award not only recognises their efforts but also reiterates future support for their work. From over 100 nominations, the EURORDIS Board of Directors voted on the recipients for this year’s awards. These awards cover the wide range of areas necessary to make a difference for rare disease patients- from individuals who have been relentless in their mission to patient organisations to policy makers and companies.
This year the Lifetime Achievement Award was presented to Former First Lady of Germany, Mrs Eva Luise Kohler, for her lifelong dedication and commitment to “address(ing) the needs of people living with a rare disease”. Following her persistent effort in Germany to create awareness for rare disease, public figures in other European countries have been inspired to follow her footsteps.
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This year’s Patient Organisation Award went to Alstrom Syndrome UK which was founded by Kay Parkinson-an inspirational figure-who has been instrumental in the development of patient led NHS funded multi-disciplinary clinics for Alström Syndrome. Alström UK has led important initiatives in the field of rare disease in addition to being a partner in the Euro-WABB project, an EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes. Eurordis also recognises the critical role media plays in reaching out to the general public about the struggles of rare disease patients and garner their support. This year the Media award went to Andrew Jack of the Financial Times for his contributions towards dessiminating knowledge about the challenges faced by rare disease patients.
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In the area of policy making, the Policy Maker Award was awarded to Françoise Grossetête and the European Rare Disease Leadership Award was awarded to Dr Ruxandra Draghia-Akli. As Member of the European Parliament, Françoise Grossetête has been highly influential in formulating several policy changes that address the needs of people living with rare diseases including regulations on Advanced Therapy Medicinal Products and the Cross Border Healthcare Directive. The award for European Rare Disease Leadership Award was received by Dr Ruxandra Draghia-Akli the Director for Health Research at the European Commission dedication and commitment in making sure that people living with rare diseases get their day in the sun. Dr Draghia-Akli is currently the chairperson of the International Rare Diseases Research Consortium (IRDiRC).
The Volunteer award was presented to Lesley Greene for her exceptional contributions as a volunteer for various initiatives benefiting the rare disease community. Ms Greene is currently the Vice-Chair of the Committee for Orphan Medicinal Products at the European Medicines Agency and Co-Founder and former Vice President of CLIMB.
EURORDIS awarded the Scientific Award to Orphanet’s very own Dr Ségolène Aymé for her “overall scientific excellence, promotion of European and International collaboration, and support of the patient community via Orphanet, the world’s leading reference portal for expert validated rare disease and orphan drug information”. Although retired from her position as Director of Orphanet, Dr Aymé is as active as before in her commitment towards rare disease stakeholders. She is the Chairperson of the European Committee of Experts on Rare Diseases (EUCERD), Scientific Secretariat of the International Rare Disease Research Consortium (IRDiRC), and Chair of the Topical Advisory Group for Rare Diseases for the revision of the International Classification of Diseases at the World Health Organisation and at the helm of activities and initiatives to help the rare disease community.
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Genzyme (a Sanofi Company), Prosensa and Celgene were given the company awards for their contributions towards enhanced and innovative drug development for rare disease patients. The event was also well attended by several important figures in the European community. It was co-chaired by Professor Milan Macek from Charles University in Prague and by Eric Emmanuel Schmitt the well-known dramatists, film director and philosopher. The range of honorary patrons included among many others Herman Van Rompuy, President of the European Council. Proceeds of this dinner will go towards creating greater awareness of rare diseases.
Go to the Eurordis website
Photo courtesy: Eurordis
Two French agencies joined forces to issue guidelines in the complicated field of constitutional genetic testing for médical purposes: the "Agence de la Biomédecine" and the "Haute Autorité de Santé" in charge of health technology and medical practice assessment. The current document does not cover prenatal diagnosis, only post-natal genetic diagnosis. The purpose of the document is not to provide technical recommendations, which is of the responsibility of learned societies, but to define a framework assuring quality services to patients, in a field evolving rapidly from a technology point of view. The guidelines cover the prescription of the test, its performance and the report to be issued, whatever the technique used. They emphasise the importance of the adequate information to the patient and of his consent. They complement the legal provision from the Bioethics Law and respect guidelines and recommendations published by other organisations, such as the OECD, EuroGentest and the additional protocol on genetic tests of the Oviedo convention. The document is only available in French. 
An article published in Journal of Translational Medicine has analysed the current public policies in relation to advanced health technologies in Thailand. The authors believe that there are several unaddressed issues when it comes to current policies in improving advanced health technology. The authors have reviewed existing literature in advanced health biotechnologies and provides a series of recommendations for the Thailand Food and Drug Administration (TFDA) for advanced therapy health biotechnology. They also point-out the importance of setting up appropriate procedures at different levels of market authorisation and suggested several examples where U.S and Europe can be used as benchmarks for what can be achieved in Thailand. 
Children of Virgilio school in Rome worked for more than a year with the Bambino Gesù Children Hospital to try and understand the trials and tribulations of rare diseases patients. These primary and middle school children not only studied and researched rare diseases but they also wrote poems, created drawings in striking display of empathy and encouragement towards children suffering from rare diseases. They also produced a delightful short video with the help of their teachers that is shown above. This school project was aptly named “if you know them you’re not afraid of them”. 
Declared Dr. Gregory House of the eponymous television show House, drawing attention to the popular expression of calling a rare disease diagnosis “a zebra” by the medical community. In an attempt to weed out the horses, Danish researchers have built 
In an article published in Expert Opinion Orphan drugs, the author reviews the process for registering orphan drugs for inherited disorders of metabolism and providing access to subsidised therapy through a centralized national program in Australia. The federal government of Australia subsidises an extensive range of drugs under the Pharmaceutical Benefits Scheme (PBS). In addition, financial assistance under the Life Saving Drugs Program (LSDP) is made available for certain expensive drugs to treat, for instance rare inherited disorders of metabolism. The government provides funding each year for the LSDP, which especially subsidises prohibitively expensive drugs, beyond the reach of the patient and which significantly lengthens the life expectancy of the patient. In Australia, the Therapeutic Goods Administration (TGA) provides marketing authorisation for all drugs in Australia. Once a drug is registered by the TGA, an application can be made by the drug company to the Pharmaceutical Benefits Advisory Committee (PBAC) for the drug to be funded under LSDP instead of PBC. PBAC is an independent, expert advisory body that makes recommendations to the Federal Minister for Health and Ageing on which drugs should be listed for subsidies. PBAC is considered and expert body as it is “comprised of doctors, a health economist, other health professionals and a consumer representative” who collectively assess and provide advice on the efficacy of a drug to be funded under LSDP. The LSDP is also aided by the Disease Advisory Committee (DAC) for making disease specific assessment of the needs of the patients, for eg., patients suffering from rare metabolic disorders. This streamlined procedure where expertise is centralised and “all Australian patients are managed and treated under the aegis of disease-specific specialist clinical advisory committee” is especially helpful in a large but population sparse country like Australia where rare disease patients are few and expert centers can be a great distance apart. However, the author emphasises that since only medications that "significantly lengthen" lives are funded under these schemes, rare diseases patients may not have the option to access available medications that may not necessarily augment life but may significantly improve their quality of life.
A commentary in Science Translational Medicine describes the current process in the Medicare and Medicaid system reimbursement system in the US for molecular diagnostics and also provides some suggestions for its improvement. Due to current advancements in molecular diagnostics, it is considered a fast-growing research and development industry. Both the Food and Drug Adminstration (FDA) and (Centers for Medical and Medicaid Services) CMS play a crucial role in the development and commercialization of diagnostic tests. Both the FDA and CMS require diagnostic tests that qualify as medical devices to "provide a reasonable assurance of safety and effectiveness” for market authorisation and reimbursement respectively. However, due to changes in the healthcare system, the author says that “there are shifting evidentiary expectations create an environment that required increasingly costly generation of clinical evidence to meet different regulatory criteria yet does not provide the predictability, clarity or financial incentives for product developers to invest in the larger studies needed to meet the new evidentiary standards”. The authors believe that “the ultimate solutions to the regulatory and reimbursement dilemmas confronting molecular diagnostics may require sweeping statutory or regulatory changes”. However, due to the current political climate, where the Republican party have attempted to repeal the Universal Healthcare mandate 39 times and the depleting economic climate in the US. The authors believe that currently there two innovative policy initiatives- Coverage and evidence development (CED) and parallel review that provides some respite to make sure the regulatory and reimbursement process is not stalled and the evaluation of innovative medical products continues in a smooth manner. CED allows CMS to provide temporary reimbursement for promising new technologies while additional clinical data are generated to better inform the agency’s longer-term coverage decision. According to the author, although molecular diagnostic tests are a prime candidate to apply to the CED, there are few roadblocks that can be addressed such as clarifying “the ability of CED to complement postmarketing requirements of FDA approvals, procedures and safeguards for local contractors to use CED, and be used within and abbreviated national coverage determinations (NCDs)”. The other process of parallel review where “CMS to begin its coverage determination process for new devices while they are being evaluated by FDA”, which was started in 2011 and this process is restricted to molecular diagnostics. Although this process appears to be good on paper, so far only one molecular diagnostic test has been approved through this process. The author believes making a few amendments to the parallel review process will make it more attractive. The amendments suggested by the author include “reconsider(ing) eligibility of molecular diagnostics cleared under 510(k), removing NCD requirement from initial stages of parallel review (and) provide incentives for use of parallel review”. 
An article appearing in the European Journal of Human Genetics revealed a novel method of prenatal diagnosis by using genetic linkage analysis. In recessive diseases, without a known diagnostic test, a clinical geneticist may be able to inform the parents that there is a 25% risk of giving birth to an affected baby. However, even though there is a 75% chance of having a healthy baby, some parents may not be in a position to take that risk. The authors in this study have demonstrated that the usage of genetic linkage analysis can be highly beneficial to parents who are potentially at risk of giving birth to children with rare and unknown genetic syndromes. A mother of a consanguineous Kurdish family with 3 out of 5 children displaying “similar phenotype of a so far unknown genetic syndrome” was faced with an unplanned pregnancy. In order to identify if the foetus would also be affected the authors used genetic linkage analysis followed by prenatal testing of the maternal plasma. The disease-linked gene region was identified by using data from a genome-wide SNP scan for linkage analyses. It was observed that the unaffected members were not homozygous for this region and further information from affected members of the extended family allowed narrowing the risk region considerably. The authors established that the “disease-associated haplotype was identified as being involved in an unknown mental retardation syndrome”. They then ascertained if the foetus had a similar gene mutation using next generation sequencing on maternal plasma and after extensive finemapping, the authors predicted that the foetus would be unaffected. Subsequently, the mother was able to give birth to a healthy child. The authors believe that this technique is extremely helpful and monetarily feasible and emphasise on the need for better counselling for many families and an introduction of genome-wide linkage analysis into national guidelines. 
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