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Edition of 04 December 2018

International News

UN Special Rapporteur calls for support for Rare Disease community in report to UN General Assembly

Catalina Devandas, UN Special Rapporteur for the Rights of Persons with Disabilities, presented her report to the UN General Assembly. In particular, it states that the lack of accurate diagnosis and effective treatments for the majority of rare diseases is a global challenge. It calls on states to develop and implement policies and practices that target the most marginalised groups of people with disabilities (for example, people with multiple or severe disabilities and rare diseases) in order to improve equity in term of access to care.

The mention of rare diseases in this report follows the advocacy efforts of the Non Governmental Organisations Committee for Rare Diseases, which includes a contribution to the report before its publication.

To learn more

Australia’s first National Rare Disease Framework

Rare Voices Australia (RVA), the national peak not-for-profit organisation advocating for the nearly 2 million Australians living with rare disease, has been campaigning for a while to develop a National Rare Disease Framework. It is now a reality. The Hon. Greg Hunt MP, Minister for Health, made the announcement on 16 November 2018, as part of the official opening of RVA’s biennial 2018 National Rare Disease Summit, which is taking place on 16-17 November 2018 in Melbourne.

The Morrison Government will commission RVA to work with all stakeholders to deliver the National Rare Disease Framework with $154,000 in grant funding.

Read the press release
Read RVA's full response

West Australia: Telethon 2018 sets a new record

Telethon has made a new record, reaching $300 million raised in its 51-year history, with a little more than $38 million raised in 2018 alone.

Read the press release

Australia: Galafold (migalastat) added to the federal government’s Life Saving Drugs Program

The Life Saving Drugs Program (LSDP) provides fully subsidised access for eligible patients to expensive and life saving drugs for life threatening and rare diseases. The list of available drugs through the programme was updated in November, with the addition of Galafold (migalastat) for the treatment of Fabry disease. It is the 14th drug to be added to the LSDP.

More information on the LSDP

China Alliance for Rare Disease holds inaugural meeting

On 24 October 2018 was launched a chinese initiative called “China Alliance for Rare Disease” (CARD), a medical research alliance built to accelerate the study of rare diseases. This Alliance is composed of more than 50 entities ranging from medical institutes, universities, academic institutions and companies. At its launch on Wednesday, the alliance released its first explanatory catalog of China's rare diseases.

Read the press release

New family guide for Duchenne muscular dystrophy

With updated recommendations, the Muscular Dystrophy Association USA, the Parent Project Muscular Dystrophy, TREAT-NMD and the World Duchenne Organisation UPPMD, have again collaborated to produce a comprehensive guide for families, ensuring that the latest standards of care are available to all people living with Duchenne muscular dystrophy (DMD). The new guide was released on 7 September, on the occasion of Duchenne Awareness Day, a global DMD event. Translations will be available soon. The 2010 version was available in 15 languages.

Consult the guide

European News

Public consultation on legislation of medicines for children and rare diseases launched

A public consultation was opened on legislation of medicines for specific populations (children and rare diseases) on 12 October 2018. The EU's legal framework for medicinal products for human use is intended to ensure a high level of Public Health and includes measures to encourage innovation. This study to support drug evaluation also takes into account the close links between the fields of orphan and pediatric drugs, as a considerable number of pediatric diseases are also referred to as rare diseases.

With this open public consultation, the European Commission is asking individuals and healthcare professionals to share their experiences with orphan drugs, their perspectives on their access and the role of European regulation in the development of orphan drugs.

This consultation will thus have two objectives: to estimate the strengths and weaknesses of the two legislations, separately and simultaneously, as well as to determine the economic benefits of current legislation.

The public consultation is open until 4 January 2019.

Consult the document

European Commission launches tender to support development of Clinical Practice Guidelines for ERNs

The European Commission's DG SANTE has launched a call for tenders to provide assistance to the commission to support the European Reference Networks (ERNs) and their healthcare providers in the process of development, appraisal and implementation of Clinical Practice Guidelines (CPG) and other Clinical Decision Support Tools (CDSTs) taking in account the objectives and criteria set under the framework of Article 12 of Directive 2011/24/EU on patients' rights in cross-border healthcare and relevant implementing measures and procedures. The technical assistance will contribute to implement the capacity of the Networks and its members in their task to produce and adhere to high quality CPGs and other CDST in their area of expertise.

Proposals for this 48 month tender contract are welcome until 15th February 2019.

Consult the call

First formal meeting of the Steering Group on Health Promotion, Disease Prevention and Management of Noncommunicable Diseases

Following the formalisation as the Commission's expert group in July 2018, the Steering Group held its first formal meeting in Luxembourg on 6 November 2018. Representatives of the Member States, several Commission services and the European Bank examined a wide range of policies and initiatives in the area of public health. During this meeting, the Steering Group has, among other things, conducted a study on rare diseases with regard to the sustainability of Orphanet and the development of the rare diseases registry platform by the Joint Research Center. The steering group was also informed about future investment planning.

The next steering group meeting is scheduled for February 2019 and should be a joint meeting with the Research Program Committee.

Read the flash report

Patients call for participation in European cooperation on Health Technology Assessment

On 13 November 2018, 14 European patient organisations and federations, including EURORDIS, issued a statement calling on the EU institutions to adopt the appropriate measures to fully integrate meaningful patient participation in EU cooperation in the evaluation of Health Technology Assessment (HTA) (in the form of joint consultations, early dialogues, scoping and evaluations). The purpose of this statement is to emphasise on the fact that health technology assessment makes sense only if the evaluators know what are the relevant outcomes to be improved and what impact on their daily lives patients expect from the technology. The organisations have also argued that form of the discussion matters, and that filling out written documents is not enough to collect patient information, which should instead be solicited in the form of face-to-face meetings (joint consultations), focus groups with evaluators for the scoping phase, telephone interviews with evaluators, techniques for determining patient preferences and panels of experts or citizens. Patients want to be included in all decision-making steps that will directly impact their lives, by being members of clinical trial ethics committees, working with industry to improve the quality of clinical trials, being members of the European Medicines Agency scientific committees, and by contributing to pharmacovigilance by reporting adverse effects.

Read the joint statement

The executive summary of the European Conference on Rare Diseases is available

The executive summary of the European Conference on Rare Diseases and Orphan Products (European Conference on Rare Diseases and Orphan Products, ECRD) has recently been published. This conference took place from 10 to 12 May 2018 in Vienna. The executive summary presents the key figures, priorities and results of this edition. Posters and presentations are available on the ECRD website.

Board of Member States on European Reference Networks (ERNs)

The Board of Member States, defined in the European Commission's Implementing Decision, was created on 5 February 2014.

The main tasks of the council are:

Approval of network proposals and membership applications from health care providers
Approval of health care providers wishing to join an existing network
The termination of a network (evaluation)
The decision to lose membership

The European Commission has just published the minutes of the Board of Member States dated 26 June 2018. This Board focused in particular on the amendment to Implementing Decision 2014/287/EU, a feedback on the activities of the ERN coordinating groups, the integration of ERNs into the Member States’ national health system, ERN monitoring, tenders under the Health Program to support ERNs, the progress on the CPMS (Clinical Patient Management System), and finally the preparation for Brexit. The minute details can be viewed here.

Guidance from the European Medicines Agency (EMA) on medicines used in children

The EMA has published the new good pharmacovigilance practice (GVP) chapter IV on specific considerations for the pediatric population. The guide provides an overview of pediatric pharmacovigilance and provides advice on how best to use existing tools and processes to address the specific needs and challenges of drug safety control for children. It addresses aspects of pharmacovigilance of particular interest for the use of medicines in children, such as off-label use and medication errors, and contains child-specific guidance on all major tools and pharmacovigilance.

Read the press release

Report on the application of the European Reference Networks model outside of the rare disease field

The Expert Panel on Effective ways of Investing in Health’s expertise includes, but is not limited to, primary care, hospital care, pharmaceuticals, research and development, prevention and promotion, links with the social protection sector, cross-border issues, system funding, information systems and patient registries, health inequities, etc.

European Reference Networks (ERNs) were created by the directive on the application of patients' rights in cross-border healthcare. They provide a means by which patients with rare and complex diseases can access highly specialised information throughout the European Union.

The Expert Panel was invited to provide advice on areas that could benefit most from the ERN model, options for new longer-term networks and the roles they could play, and on how best the Member States could integrate networks into their national frameworks.

The Expert Panel concluded that while ERNs have considerable potential to improve the care of patients with rare diseases across the EU, both through individual patient management advice and collaboration in terms of research and development of guidelines, it is not yet possible to determine to what extent these objectives will be achieved. The Expert Panel also identified a number of issues that, even at this stage, seemed to need to be resolved, including long-term financial sustainability and the implementation of efficient IT systems.

Mapping health care in rare diseases: The example of epidermolysis bullosa in Germany

With an estimate of around 2,000 people affected by epidermolysis bullosa in Germany, including many children, but only two specialised centers, the question arose as to where and how health care for this rare disease is provided. An online survey of all pediatric and dermatology departments in Germany provided an opportunity to draft an answer to this question, and the results were published in the Orphanet Journal of Rare Diseases. The results of the survey show that health care for people with epidermolysis bullosa in Germany is provided in a multidisciplinary way. The authors of the studies claim that diagnostic approaches and follow-up recommendations are heterogeneous and that national guidelines are lacking. They also argue that operational and innovative policy structures are needed to improve networks and strengthen specialised centres to meet the special needs of people with epidermolysis bullosa and other rare diseases.

Orphanet J Rare Dis. 2018 Nov 8;13(1):197

Consult the PubMed abstract

Update on conect4children progress

c4c (conect4children) is a large European collaborative network that aims to facilitate the development of new medicines and other therapies for the entire pediatric population. This is a unique opportunity to strengthen the capacity to implement multinational pediatric clinical trials. Started in May 2018, the project is now fully functional and active in the development of a large pan-European collaborative network for pediatric clinical trials.

Consult the website

Roundtable with health technology industry to discuss EU digital health agenda

On 15 October, a round table took place on the action program set out in the Commission's recently adopted communication on "The Digital Transformation of Health and Care in the Digital Single Market" in Brussels. Its main objective was to exchange views on the vision for the future with regard to a fully digitally transformed health and care in the European Union (EU).

In particular, participants discussed the challenges and opportunities for interoperability and the Commission's plans for the upcoming recommendation on establishing a format for the exchange of electronic health records. Participants also discussed the potential for health of key technologies such as artificial intelligence and high-performance computing, which can help design new health care products, provide faster diagnosis and better treatments.

These discussions will benefit all European patients, but especially those with rare diseases, because interoperability of data and better information exchange within Europe is the key to better diagnosis and the driver of therapeutic innovations.

In line with this round table, the European Commission has also recently announced the EU funded eHealth Hub platform. It is a free online catalog that lists the ecosystem of IT companies, investors and other stakeholders, such as experts, companies and business partners active in the European digital health landscape.

Read the press release

European Commission publishes 10 patient errors in cross-border care

The European Commission has just published a "top 10 mistakes made by patients regarding cross-border care". This follows the European Commission's recent report on cross-border care, which showed that there is still room for improvement in patient awareness of the existence of cross-border care and especially of national contact points. This top 10, available here, includes:

Not being informed on their rights to treatment abroad under EU law
Not planning their trip thoroughly
Leaving without prior authorisation
Not being informed on the financial implications
Traveling without first contacting the National Contact Point
Traveling without the transfer of medical records
Not taking possible language barriers into consideration
Not arranging suitable medical follow-up
Not presenting the required documentation needed to obtain reimbursement
Not being informed on where and how to file a complaint

Impact of Brexit on European medicines regulation and access to healthcare

A recent article in Clinical Pharmacology and Therapeutics looks back on the history of Brexit, as well as the legal and policy options for the UK and the EU. At the time of writing (October 2018), both were uncertain. The response of the pharmaceutical industry and the possible consequences for UK patients are significant, especially with regard to delays in access to innovative treatments and increases in the cost of medicines. Although the UK drug regulation may have certain advantages, these will depend on the outcome of the ongoing negotiations.

Clin Pharmacol Ther. 2018 Oct 22

Consult the PubMed abstract

Bioinformatics

Harmonising phenomics information for a better interoperability in the rare disease field

HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program, which aims to provide the community with an integrated and rare-disease specific bioinformatics ecosystem that will harmonise the way phenomics information is stored in databases and patient files worldwide, and thereby contribute to interoperability of this data. This project relies on major resources largely adopted in the rare disease community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) and PhenoTips software for the capture and sharing of structured phenotypic data. The project is further supported by resources developed by the European Bioinformatics Institute and the Garvan Institute. Once finalised, HIPBI-RD will provide a resource capable of bridging genome-scale biology and a disease-centred view on human pathobiology, and will no doubt help improve diagnostics in the field of rare diseases.

The joint international project objectives, achievements, outcomes and future directions were recently published in the European Journal of Medical Genetics.

Eur J Med Genet. 2018 Nov;61(11):706-714

Consult the PubMed abstract

GA4GH new interoperability standards

The Global Alliance for Genomics and Health (GA4GH) has announced new interoperability standards for genomic data sharing. The following standards: Beacon API V1.0.0, refget API V1.0.0, and Workflow Execution Service (WES) API V1.0.0, will join a larger group of standards that aim at federating a network for international genomic data sharing that can work both independently and/or together. In addition, the Beacon API, jointly released by ELIXIR, is a data discovery protocol that contains increased security measures to prevent any disclosure of data allowing differentiation of individuals in the dataset.

AnacletoLab paper among the five best of the year in Medical Informatics

The paper written by AnacletoLab of the Bioinformatics Lab of the Department of Computer Science Giovanni Degli Antoni of the University of Milan was selected by the International Medical Informatics Association as one of the five best “Knowledge Representation and Management” papers of 2017 in the field of medical informatics. Entitled “Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble method”, the paper was published in BMC Bioinformatics, and treated of hierarchical ensembles which are efficient computational methods that guarantee biologically meaningful predictions that obey the true path rule, and can be used as a tool to improve and make consistent the HPO terms predictions starting from virtually any flat learning method.

BMC Bioinformatics. 2017 Oct 12;18(1):449

Consult the PubMed abstract

Registries & Biobanks

The Italian neuromuscular registry

In Europe and worldwide, the landscape of patient registries in the neuromuscular disease field has changed during the last 10 years. In Italy, several patient organisations and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009. An article published in Orphanet Journal of Rare Diseases reviews the implementation of this joint effort and the experience gained. Overall, the article applauded the effort, highlighting the level of patient involvement while also engaging the expert clinicians of the Italian network in the collection of data according to the best clinical practices.

Orphanet J Rare Dis. 2018 Oct 4;13(1):176

Consult the PubMed abstract

Five years of NORD’s patient registry success

The National Organization for Rare Disorders (NORD) celebrated five years of their IAMRARE patient registry programme, with the announcement of a new multi-stakeholder model of engagement in collaboration with the Foundation for Prader-Willi Research and the biopharmaceutical company Zafgen. More generally, the new model will allow for the creation of sub-studies to capture distinct data related to a project needs against the full registry population, or study specific trends in a subset of the patient population.

Read the press release

Genome-wide association studies of brain imaging phenotypes in UK Biobank

A genome-wide study of 3,144 functional and structural brain imaging phenotypes from UK Biobank was conducted and the results published in Nature. This work will prove to be relevant to the further study of neurological and psychiatric disorders, brain development and aging.

Nature. 2018 Oct;562(7726):210-216

Consult the PubMed abstract

Health economics

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders

A study published in Genetics in Medicine aimed to generate benchmark estimates for the cost, diagnostic yield, and cost per positive diagnosis of diagnostic exome sequencing in a pediatric population. The study used a literature review and Monte Carlo simulations to generate benchmark estimates for singleton and trio exome sequencing. The authors concluded that the cost-effectiveness of exome sequencing should be drawn with caution when relying on studies that use cost or yield assumptions at the extremes of the benchmark ranges.

Genet Med. 2018 Sep;20(9):1013-1021

Consult the PubMed abstract

Cost-effectiveness analysis of combination treatment for cystic fibrosis patients in the US

A cost-effectiveness study was performed on the combination of lumacaftor and ivacaftor for the treatment of patients with cystic fibrosis who are homozygous for the F508del mutation in the United States (US). The study, published in Orphanet Journal of Rare Diseases, showed that the treatment produced large quality adjusted life year gains but at an extremely high cost, hardly covered by insurance, while the orphan drug status complicated further coverage decisions.

Orphanet J Rare Dis. 2018 Sep 29;13(1):172

Consult the PubMed abstract

Screening

Australia: Newborns to be tested for spinal muscular atrophy (SMA)

Australian Health Minister Brad Hazzard announced that babies born in New South Wales and Australian Capital Territory would benefit of a bloodspot screening for spinal muscular atrophy (SMA) and primary immunodeficencies (PID).

This new screening program will be funded for two years by the NSW Government through Paediatrio, a research collaboration between Sydney Children’s Hospitals Network, Children’s Medical Research Institute and the Children’s Cancer Institute.

Read the press release

Effect of genetic diagnosis on patient with previously undiagnosed disease

A study published in the New England Journal of Medicine covered the subject of patients evaluated referred to the Undiagnosed Diseases Network (UDN) over a period of 20 months. The Undiagnosed Diseases Network was initiated in 2014, funded by the National Institute of Health (NIH), and constitutes a network of seven clinical sites, two sequencing cores, and a coordinating centre. Of the 382 patients who had a complete evaluation via the UDN, 132 received a diagnosis, yielding a diagnosis rate of 35%. 74% of these were made by exome or genome sequencing.

N Engl J Med. 2018 Oct 10

Consult the PubMed abstract

Ethical / Legal / Social

Health professionals’ and researchers’ perspectives on prenatal whole genome and exome sequencing

The prenatal Assessment of Genome and Exomes (PAGE) project is a UK-wide study aimed at gaining a better understanding of genetic variants causing developmental problems during pregnancy. Another objective is to provide evidence-base for the introduction of prenatal whole genome and whole exome sequencing into prenatal diagnostics of the NHS (National Health Services). A qualitative study took place with 20 health professionals and researchers involved in the PAGE project, to explore the implications for understandings of “good practice” in the clinical uses of prenatal genomics, the results of which were published in PLoS ONE. This study raised a number of critical issues concerning consent, management of expectations, return of results, and professional duties. These issues will have to be incorporated into ethical practice guidelines following the PAGE project.

PLoS One. 2018 Sep 21;13(9):e0204158

Consult the PubMed abstract

Meeting patient’s right to the correct diagnosis: ongoing international initiatives on undiagnosed rare diseases and ethical and social issues

The time to reach a correct diagnosis when it comes to rare diseases can be very long. With the combination of -omics and phenotype data, there is a chance to reduce this time before diagnosis, but these technologies raise a certain number of ethical issues. A review published in the International Journal of Environmental Research and Public Health describes these issues and highlights the importance of integrating patients’ involvement in the search for a diagnosis. As such, they raise a number of recommendations to improve the quality of the relationship between the patient community and the scientific community, such as letting patients actively participate in the description of their phenotype and letting them choose the level of visibility of their profile in matchmaking databases.

Int J Environ Res Public Health. 2018 Sep 21;15(10)

Consult the PubMed abstract

Clinical, treatment-based and ethical considerations of nusinersen therapy in Canada for spinal muscular atrophy

In June 2017, nusinersen was approved in Canada as the first disease-modifying drug for spinal muscular atrophy (SMA). A review article published in the Journal of Paediatrics and Child Health analysed the cost and ethical considerations of a drug that sells for almost 1 million dollars for the first year of therapy. The authors postulate that a consistent framework should be implemented to aid reimbursement decisions for orphan drugs such as nusinersen, to allow for transparent and ethical allocation of healthcare resources.

J Paediatr Child Health. 2018 Sep 23

Consult the PubMed abstract

Assessing utility values for treatment-related health states of acute myeloid leukemia in the United States

A study published in Health and Quality of Life Outcomes analysed utilities for treatment-related health states of acute myeloid leukemia (AML) and disutilities of severe adverse events occurring with chemotherapy. Survey participants were presented with pairs of alternative hypothetical scenarios. The analysis of societal preferences for treatment-related AML health states showed a strong preference for maintaining independence and avoidance of hospitalisation.

Health Qual Life Outcomes. 2018 Sep 21;16(1):193

Consult the PubMed abstract

Discussion between a geneticist and a social scientist about genome editing of human embryos on The Conversation

The Conversation publishes “Head to Head”, a series in which academics from different disciplines can discuss about current debates. Felicity Boardman, a social scientist and assistant professor at Warwick Medical School had the opportunity to discuss with Helen O’Neill, molecular geneticist at the Institute for Women's Health at University College London, about the ethical aspects of genome editing in human embryos.

Consult the article

CRISPR/Cas9 gene editing: Research technologies, clinical applications and ethical considerations

The repurposing of CRISPR/Cas9, an ancient bacterial immune defense system, has provided to researchers a revolutionary tool for gene therapy. An article published in Seminars in Perinatalogy explores CRISPR technology and the ethical considerations one has to keep in mind when talking about human gene editing.

Seminars in Perinatology 2018.

Consult the abstract

Health-related quality of life in pediatric population

The editorial of a recent edition of Archives of Disease in Childhood was written about another paper in this issue called “Health-related quality of life and its determinants in pediatric arterial ischemic stroke survivors”. This study aimed at unveiling a comprehensive and subjective assessment of patient’s well-being (patient-reported outcome), which the author of the editorial stressed is important to do, as objective (externally observable) assessments of a person’s health can differ widely from subjective valuations of the same health state.

In the case of pediatric arterial ischemic stroke survivors, the study found that lower health-related quality of life was demonstrated in those children and that socioeconomic status of families was an important determinant of health-related quality of life, over and above clinical parameters.

Arch Dis Child. 2018 Oct;103(10):930-936

Consult the PubMed abstract

A multi-national qualitative research study exploring the patient experience of Raynaud’s phenomenon in systemic sclerosis

Raynaud’s phenomenon is the most common manifestation of systemic sclerosis, and is episodic as well as difficult to assess in the clinic. The authors of a study published in Arthritis care and research postulated that a thorough understanding of this manifestation is thus essential to ensure accurate and appropriate patient-reported outcomes. The international qualitative study gave the conclusion that a complex interplay of experiences resulted in a significant impact on patient experience, and the results will help to provide a new patient-reported outcome instrument for assessing the severity and impact of Raynaud’s phenomenon in systemic sclerosis.

Arthritis Care Res (Hoboken). 2018 Sep;70(9):1373-1384

Consult the PubMed abstract

Burden of albinism: Development and validation of a burden assessment tool

A paper written in partnership with the french organisation FIMARAD and published in Orphanet Journal of Rare Diseases explains how a questionnaire was devised on the quality of life of people living with albinism. It allowed for a quick evaluation of the burden over time with a reproducible method.

Orphanet J Rare Dis. 2018 Sep 18;13(1):162

Consult the PubMed abstract

Orphan drugs

New "ultra-orphan" approach for medicines in Scotland

A new approach for the evaluation of ultra-orphan drugs was introduced in early October, in line with the announcement made by the Scottish Government in June 2018.

To be considered an ultra-orphan drug, all the criteria listed must be met:

Prevalence is at least 1 in 50,000 in Scotland
The medicine has an orphan designation of the European Medicines Agency (EMA) for the disease and is maintained at the time of marketing authorisation
The condition is chronic and severely disabling
The condition requires highly specialised management

Drug development in pediatric oncology: Challenges and opportunities: reflections from European regulators

Drug development in pediatric oncology remains a challenge, as stated in the European Commission’s 10-year Report on the Pediatric Regulation published in 2017. Authors of a perspective article published in Expert Opinion on Orphan Drugs state that further collaborative efforts are needed to produce innovative and inclusive ways for pediatric drug development.

Expert Opinion on Orphan Drugs Volume 6, 2018 - Issue 9: Rare Cancers

Consult the abstract

Summary of the edition of 04 December 2018

Editorial
Political news
Scientific news
And also...