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Edition of 21 July 2017

International News

Rare disease diagnosis in China

Science China Life Sciences is reporting on how the Chinese government has begun promoting basic research into rare disease. Leading the way is a focus on paediatric rare diseases, and the journal will launch new efforts in this direction with ten articles covering different paediatric rare diseases. There is also mention of the Encyclopaedia of Rare Disease Annotations for Precision Medicine (eRAM), and the Undiagnosed Diseases Program established by the National Institutes of Health, all together an important primer for Chinese efforts in rare disease research.

The National Institutes of Health Undiagnosed Diseases Program experience

A research team has published an article in Frontiers in Medicine introducing and describing to readers the philosophy, methodology and processes that the Undiagnosed Diseases Program is based on, in the National Institutes of Health. There is in depth discussion and reporting of the processes related to the Undiagnosed Diseases Program, including chromosome microarray and exome sequencing and collaboration to leverage global expertise, using distributed cognition enabled through the internet.

Read the article

Perspectives for the Priority review voucher program

An article published in The American Journal of Tropical Medicine and Hygiene covers the priority review voucher program introduced by the US Congress in 2007 to encourage development of drugs for neglected diseases. It is written as a response to an earlier paper in the journal, authored by industry experts who have encountered the voucher program. It weighs both the positives and negatives and concludes with a recommendation to commence a debate with policy makers, regulators, academics, pharmaceutical manufacturers and public healthcare advocates to refine and enhance the program moving forward.

Read the article

Effects of the orphan drug designation on investors

The Orphanet Journal of Rare Diseases has published an article discussing the value of the orphan drug designation to pharmaceutical manufacturers. Awarded by the Office of Orphan Products Development at the American Food and Drug Administration, many studies have assessed the trends in orphan designation rates, new orphan drug approvals and benefits to patients due to development of treatments with orphan drug designation. This author has struck out in a new direction, to determine whether there is a statistically significant change in a company’s stock price after the announcement of an orphan designation, and how the change may differ based on drug or company characteristics. The article concludes that orphan designation seems successful at generating positive value for companies.

Read the article

European News

State of play of incentives supporting the development of advanced therapy medicinal products for rare diseases in Europe

In an article for Frontiers in Medicine, a team of researchers work to ascertain the state of play of incentives to produce Advanced Therapy Medicinal Products (ATMP) for rare diseases. The team notes that legislation, and the resultant growth of medicinal products and licensing, is on the increase at a considerable rate. They hope to study these trends to understand technological development, target indications in rare conditions, and crucially the potential outcomes for efficient usage of incentives. The researcher’s conclusions lead to a recommendation for greater cooperation between sponsors and regulators on the development of orphan drug ATMPs.

Read the article

Cross border healthcare in Europe: a review from an Italian perspective

An article has been published in Travel Medicine and Infectious Disease to illustrate how the increase in global travel should be approached in light of EU Directive 2011/24/EU, regarding patient rights in cross-border healthcare, by using the current Italian initiative as example. The article begins by acknowledging that usage of the cross-border healthcare service is low compared to overall health service usage across Europe, and speculates that this is due to lack of knowledge regarding possibilities for cross-border healthcare, and the resultant lack of confidence in using this mechanism. Conversely, the authors cite the introduction of laws requiring the creation of a National Contact Point in Italy in 2014, which provides citizens with complete and accurate information on their entitlements and legal status concerning patients’ rights and liability, as well as the quality and clinical aspects of care, along with availability, issues, prices and other practical aspects. The article concludes recommending widespread adoption of the EU Directive to improve and standardise the rights of all European citizens regarding their health services.

RD-Action: identification of mechanisms influencing sustainability, equity and resilience of health systems for rare diseases

Writing for Annali dell'Istituto Superiore Di Sanita, a team of authors examined the task assigned by the Joint Action for Rare Diseases (RD-Action) - to identify mechanisms influencing sustainability, equity and resilience of health systems for rare diseases. Sustainability of health systems for rare diseases shares additional challenges to those faced by health systems, that are stressed by the current financial crisis. The authors carried out a literature review for existing publications referring to these mechanisms. Two main topics stood out: economic evaluation and networks. Healthcare networks are identified as increasingly important for sustainability and resilience, in all of their aspects: professional “expertise”, “experience” networks of users and carers; policy, learning, and interest networks. This led to the authors concluding that a positive way forward would be to promote networking, patient empowerment and reorientation of healthcare towards integrated community and home care, all based on the capacity of individuals, communities and societies to positively adapt to challenges. This literature review is the first step of the RD-Action task on giving recommendations for sustainable and resilient health systems for rare diseases.

Read the article

Publication of the 2016 activity report and 2017 action plan of EURORDIS

The EURORDIS Rare Diseases Europe 2016 activity report and 2017 action plan for are now available online. The introduction by Chief Executive Yann Le Cam and Terkel Andersen, President of the Board of Officers, is very positive. They observe how EU legislation promotes industry to develop orphan medicinal products, and how Member States have introduced national plans and strategies to unify their country’s efforts in rare disease research and treatment. They also highlight how patient centricity is becoming more and more important to policy makers, researchers and pharma companies. Appropriately, many activities for 2017 onwards concentrate on supporting patient advocacy, engaging patients, and empowering patient organisations.

Read the activity report & the work plan

The EMA publishes an action plan for SME and the annual report from the SME Office

The European Medicines Agency (EMA) has provided an action plan to guide small and medium-sized enterprises (SME) in driving forward innovation in the pharmaceutical sector. The plan incorporates SME stakeholder feedback, plus EMA initiatives such as PRIME and the Framework for Collaboration with Academia. Specifically, the plan will address challenges such as awareness of initiatives, training and education, and improving cross-agency engagement. To support the above, the EMA also released their annual report for 2016 from the SME Office.

Read the EMA action plan for SME
Read the EMA SME Office annual report

Ethical Legal Social

Rare diseases in the educational sphere

The prevalence and depth of knowledge concerning rare diseases in the education sphere was the topic investigated for this article for Academic Journals. After a succinct introduction to the field of rare diseases, the authors outlined the process by which they would review what resources were available to support educators who wish to support children with rare diseases in a school environment. The results are tabulated in the article, and after careful sifting and studying, the original eighty documents that possibly could be termed resources for a teacher or other educator were reduced to only six that were independently assessed to be of use. The conclusion is to call for more attention to be paid to research, to transform and make progress in the educational response to pupils with RDs within the framework of inclusive schooling.

Research protocol to improve the methods of clinical guideline development: the example of Duchenne muscular dystrophy

For the JMIR Research Protocols publication, the researchers considered the scenario that until recently, patients and caregivers across the medical spectrum have rarely been included in the process of developing care guidelines. In an ongoing study, they introduced the goal of developing and testing an online procedure for incorporating patient and caregiver input to care guidelines development, in particular by completing the RAND/UCLA Appropriateness Method (RAM) which is used to determine care appropriateness and necessity in situations where existing clinical evidence is weak or unavailable. The procedure followed involved interviewing experts from the fields of RAM, guideline development and patient engagement, as well as patients and caregivers with Duchenne muscular dystrophy (DMD) as the central axis. A subsequent modification of the existing RAM based on these interviews will then be assessed by patient/caregiver panels, as well as consulting with the project Advisory Board for best practice recommendations on enhancing patient/caregiver involvement in the guideline development process. As of the publication of this article, the researchers had completed their interviews with the experts and were on course for a study completion date of 2020.

Medical guidance document on nutritional complications of Duchenne muscular dystrophy

This article is a medical guidance document published in Nutrients, advising healthcare professionals on the nutritional complications of neuromuscular diseases, which are occasionally underestimated. As survival prospects increase for patients with neuromuscular diseases, the authors provide a comprehensive analysis of the nutritional aspects and complications that can affect children with conditions such as Duchenne muscular dystrophy (DMD), and persist as they age. The article can illustrate how appropriate nutritional care can contribute to improved quality of life in DMD patients, as well as providing guidance for general management of patients by advising on topics like over and undernutrition, gastrointestinal complications, dysphagia and other critical issues.

Economic

Value based pricing: a case study based on sorafenib and axitinib

In this article for Pharmacological Research, the author demonstrates the arguments for introducing Value Based Pricing (VBP) against the current External Reference Pricing (ERP) System, at a time when pharmaceutical expenditure has outstripped gross domestic product worldwide. A case study to support this argument is included, based on the products sorafenib and axitinib, on the grounds of therapeutic value, high grade of evidence recommendations, lack of alternative therapeutic options, severity of the indicated health condition and significant sales growth/budget impact. The author’s analysis used Markov Models to simulate disease progression, and compared the course of disease, including adverse events, between sorafenib and best supportive care, and between sorafenib and axitinib. The results indicated the relevant VBP pricing of sorafenib and axitinib should be considerably lower than pricing under ERP. At the same time, the author acknowledges, it is not anticipated that during the current decade VBP will replace ERP or other pricing approaches due to its complexity and unresolved methodological issues.

Screening/Testing

Status of non-invasive prenatal testing in Japan

Published in The Journal of Obstetrics and Gynaecology Research is a report on a three-year study on the nationwide demonstration project of non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy. It is also an overall report on the status of NIPT in Japan. The researchers assess multiple topics including the technical abilities and limitations of NIPT, its affordability to patients and the social mechanisms that should be put in place to support people receiving results from this process.

The landscape of genetic diseases in Saudi Arabia

An update on Saudi Arabian genetics research is provided in Human Genetics journal. It is a report from the country’s only next-generation sequencing lab which has carried out over 1,000 tests last year in both multigene and whole exome sequencing. It identifies many patients with suspected Mendelian phenotypes and provides extensive records on anonymised candidates for information. Their conclusions have, amongst other factors, indicated the first autosomal recessive inheritance of genes that have thus far been linked to human diseases only in a dominant fashion. The research team hopes this study will lead to an improved diagnostic yield for genomic sequencing both locally and globally.

Summary of the edition of 21 July 2017

Editorial
Political news
Scientific news
And also...