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Edition of 30 May 2018

International News

FDA finalizes guidances to accelerate the development of reliable NGS tests

An article published on the U.S Food and Drug Administration (FDA) website highlights two guidelines developed by the FDA that will provide specific recommendations to accelerate the development and the validation of tests using next-generation sequencing- based tests (NGS). The FDA new approach is to review innovations using the two policies issued on 12 April, 2018 to provide an adequate and flexible framework to collect data needed to support the FDA’s review of NGS-based tests. The policies are set to give developers new tools to support the development and validation of such technologies. The primary aim of the FDA is to adapt regulatory review in order to make innovative and accurate testing technologies available to patients.

European News

EURORDIS Black Pearl Awards: Nominate a rare disease star

Nominations for the EURORDIS Black Pearl Awards 2019 are officially open!

Nominate the individual or organisation that you feel deserves recognition for their tireless commitment to improving the lives of people living with a rare disease.

Make a nomination by filling out the form or by submitting a web link to a video of yourself explaining why your nominee deserves to win. All nominations must be submitted in English.

This year’s categories are:

Young Patient Advocate Award
European Rare Disease Leadership Award
Policy Maker Award
Scientific Award
EURORDIS Volunteer Awards
EURORDIS Members Award
Company Awards for Health technology - New category for 2019
Company Awards for Innovation
Company Award for Patient Engagement
International Media Awards
Lifetime Achievement Award
Photo Award - Submission for photo entries will open via blackpearl.eurordis.org from November 2018!

More information on nomination criteria. Nominations close on the 20 August 2018.

The Awards Ceremony

The EURORDIS Black Pearl Awards 2019 will be presented at a ceremony held in Brussels on 12 February 2019 to mark the occasion of Rare Disease Day.

Companies can find out more about purchasing a ticket for the ceremony or partnering with EURORDIS for the Black Pearl Awards here.

Bioinformatics

Blockchain to enable medical data to be stored and transmitted safely and effectively

An article published by the European Commission highlights a recent project entitled ‘My Health My Data’ (MHMD). This project foursome the creation of a platform relying on the BlockChain technology, a system that aims to ensure data visibility to the entire network of stakeholders and limit fraudulent usage. The platform gives the opportunity to allow, deny or revoke data access depending on the uses and preferences. MHMD goal is to ensure safe transfer and storage of medical data between organisations and individuals (giving patients the possibility to share their health data anonymously). The project has been funded by the EU’s Horizon 2020 research and innovation programme.

Screening/Testing

Genomic sequencing tests: the evolution of coverage policies

An article published in the Journal of American Medical Association highlights that reimbursement is the key barrier to the adoption of precision medicine into clinical care. The study underlines that the American coverage policies do not cover Next-Generation Sequencing (NGS) tests and do not resolve the actual reimbursement coverage issues faced by patients. The authors mention that broader measures have to be taken to address policy implications to facilitate the implementation of equitable policies that would increase Medicare coverage for patients using NGS tests. There is also another aspect to take into consideration: many clinicians direct their patients to specific laboratory-developed test that have not been approved by the FDA and that are therefore only covered by patients' local Medicare contractor. The study emphasises the need to regulate those disparities to enable a better reimbursement and coverage of NGS tests in the near future.

Affordability and availability of off-patent drugs in the US

An article published in the BioMedical Journal analyses the reasons for price increases and shortages of off-patent prescription drugs in the United-States. The study aims to understand how the Food and Drug Administration (FDA) can avoid the pricing issue observed among generic drugs in the past few years and how it can implement a drug importation certification that could deal with the failure of the generic drugs market. The authors highlight the possible benefits of generic competition in the US by facilitating patient access to approved non-US regulators and manufacturers, which can ensure sustainable and affordable prices. They also mentioned using a system where the FDA permits reciprocal approval of off-patent prescription drugs approved by any of the seven non-US regulators. The study shows that designated orphan drugs like essential medicines could benefit vulnerable populations if the FDA allows for a reciprocal drug approval. The authors emphasise that it could serve to improve health outcomes and generates substantial savings for patients and US taxpayers and avoid unexpected shortages.

Orphan medicines availability for outpatient care in 24 European countries

A study published in the European Journal of Clinical Pharmacology highlights the missing implementation of specific regulations or policies for assessing orphan medicines' pricing and reimbursement in European countries. The study uncovered special arrangements such as separate budgets to help cover the reimbursement of available orphan products. The authors also mention the issue of availability of orphan medicines in outpatient care in Europe, showing that the availability varies between countries. The study emphasises that patients can receive disease-specific treatment free of charge when dispensed from health care units and pay part of the cost themselves when dispensed from community pharmacies. The authors agreed that assessing the value of orphan medicines for reimbursement is a challenge as strategies used in decision making do not entirely apply to orphan medicines. At the moment the question is whether orphan medicines should be considered as a separate group in reimbursement regulations in order to cover and grant patient access to orphan products.

Study Design

Report of the ISPOR rare disease special interest group on the challenges faced by HTA and research on rare disease technologies

An article published in the journal Science Direct: Value in Health identifies key challenges in rare disease (RD) research, and health technology assessment (HTA) to provide sustainable solutions in the development of new therapies. The study highlights the work of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) Rare Disease Special Interest Group which evaluated the challenges found in research and HTA. The main challenges related to research were linked to the low prevalence of rare diseases, including lack of disease recognition, misdiagnosis, limited diagnostic criteria, disease heterogeneity and geographic variation. On the other hand, challenges found in HTA were related to the uncertainty of decision makers in health care linked to insufficient clinical data, cost-effectiveness, no standard of care, unmet need and budget limitations. The authors suggest that a collaborative effort across all stakeholders is necessary to reduce the cost of new treatment development for rare diseases and to provide safe, effective and equitable treatment access to rare disease patients.

Registry

Gene therapy in rare diseases: the benefits and challenges for Strimvelis in ADA-SCID

An article published in the Orphanet Journal of Rare Diseases highlights the benefits and challenges around the establishment of a patient-centric registry for the ADA-SCID rare disease gene therapy Strimvelis. Strimvelis is the first ex vivo stem cell gene therapy approved for use by the European Medicines Agency in May 2016 to treat patients suffering from ADA-SCID without suitable matched-related stem cell donor available. The authors emphasise the need to create a different approach to the design of the registry due to the rarity of the disease, which increases the need for high patient retention rates in the registry to collect safe and effective data. This is a step forward in the management of this rare disease but it is also a challenge when it comes to monitoring post-gene therapy as the population is mainly formed of paediatric patients. This population is particularly hard to follow-up due to the need of a constant commitment on the part of the patient and physician to keep the communication going with the registry and provide ongoing medical information related to the disease progression/recession over a long period of time. The study suggests that long-term registries are to be developed to monitor safety and effectiveness of gene therapies.

SHARE initiative: collaborative paediatric research including biobanking

An article published in Biomedical Journal highlights the need to establish recommendations for collaborative innovative research in childhood rheumatic diseases. The authors' aims are to provide a framework to enable research across Europe including data and biobanking collaborations and to synthesise the evidence for best practice in paediatric rheumatic diseases. The study mentions the initiative ‘Single Hub and Access point for Paediatric Rheumatology in Europe (SHARE) has been funded to encourage international collaboration and to optimise care for children with rheumatic diseases across European countries.

European Reference Networks

ERN RARE-LIVER new opportunity for rare liver patients

A study published in the Journal of Hepatology highlights the initiative taken by the European Reference Network for Rare Liver Diseases’ (ERN RARE-LIVER) to advance the scientific and medical community understanding of rare liver diseases. ERN RARE-LIVER was designated during spring 2017 by the European Commission to address the health care problems faced by rare liver disease patients and to establish infrastructures that provide the best care for all patients, and enable the development of more effective therapies. The authors show that the ERN initiative is an important tool to overcome therapeutic problems such as lack of speciality knowledge, low experience in managing specific conditions, lack of training for clinicians when providing diagnostic to rare liver disease patients. The primary mission is to establish reference centres for the diagnosis and management of patients with rare diseases, so they can receive more accurate diagnosis and suitable therapy for their condition. The study aim is to underline critical issues and create a roadmap to provide a better care for patients with rare liver diseases.

Summary of the edition of 30 May 2018

Editorial
Political news
Scientific news
And also...