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Edition of 30 April 2020

International News

Australia launched its First National Strategic Plan on rare diseases

On 26 February 2020, the first Australian National Strategic Action Plan for rare diseases was launched, and the Australian government granted $3,3 million to support activities in the area. Rare Voices Australia (RVA) will receive $1 million for a three-years period for its activities as the key patient organisation in the area, in addition to $170,000 received by RVA to implement the National Plan, including consultation with stakeholders, and patients with rare diseases conditions. The remaining $2.3 million is dedicated to new education resources on rare diseases for health professionals and people living with rare diseases. In February 2019, the Australian government provided $38.6 million to the Medical Research Future Fund, and $614 million for clinical trial programs for rare diseases, rare cancers, and other diseases with unmet needs.

The United Kingdom rare diseases strategy updated for the second time

In a policy paper, the United Kingdom (UK) government updated the UK rare disease strategy for the second time, as well as the implementation plan that accompanies it. This strategy update focuses on 51 commitments grouped in the five following themes:

1. Empowering patients affected by rare diseases,
2. Identifying and preventing rare diseases,
3. Diagnosis and early intervention, (iv) coordination of care, and,
4. The role of research.

The original UK rare diseases implementation plan was published in January 2018 by the DHSC and the National Health Service (NHS) in England. The first update to the implementation plan took place in February 2019. NHS England will publish this year its second Progress Report regarding the implementation of its commitments.

Federated data systems to solve rare diseases

The World Economic Forum (WEF) published a white paper on global data access for solving rare disease, a health economics value framework. The paper highlights the fact that « The very nature of rare diseases calls for scientific and societal collaboration on an unprecedented scale. Federated data systems are one such example of this scale » is highlighted in the new World Economic Forum paper. The document insists on a robust and well-annotated dataset for rare diseases, for global and on each country level, and for better solutions for diagnosis, patient trial, management and treatment. This paper reviews the « know knows and know unknows » of a federated data system solution to the unmet needs of people living with rare diseases. “Ultimately, investment will be required to confirm and test the value propositions put forth in this paper.” The paper's aim is “to enumerate these value propositions along the lines of diagnostic benefit, clinical benefit, clinical trial benefit and personal benefit to individuals living with a rare disease. This will help collaborating nations to understand whether federated data systems are a best-fit solution to the global challenges inherent in rare-disease diagnosis and treatment plans.”

An overview of rare diseases status quo in six Latin American countries

Experts investigated six Latin America countries’ rare diseases public policy and the evolution of their implementation within those countries. Their research focused on the national law and regulations, the incorporation of the rare disease treatments in the health system, care delivery and patient engagement. Results of research concerning the six countries showed that Columbia, Peru, Mexico, and Argentina have already adopted a national plan on rare disease, while in 2014, in Brazil, an ordinance was passed by the government in the absence of national legislation, and 14 bills related to rare disease policy were still pending before the congress in the country. In Chile, in 2015, a law on rare diseases was modified to give a focus on other categories of high-cost diseases. The six countries are taking actions to implement regulations on rare diseases, such as in Columbia, where since 2010, six regulations have been passed, and in 2018, the Ministry of Health issued a resolution on clinical care systems for rare diseases condition. In Mexico, although a national law and other initiatives are a reality, minimal coordination by the government is noted.

The researchers noted that presidential elections and changes that occurred since legislation was passed are likely slowing government programming in the concerned countries as there is the need to educate newly elected or appointed stakeholders. Researchers recommended a common understanding and local consensus in each country to strengthen rare disease policies. Patient engagement was noted, and the will of governments to engage with patients’ organisations will sustain the policy framework on rare diseases.

Rare genetic diseases and development of new treatments in Canada

In this article, researchers from Montréal Clinical Research Institute (IRCM), highlighted the fact that rare diseases causing genes and mutations are contributing to rapid diagnosis. They are also interested by molecular genes. The researchers’ initiative focused on a rare disease cell map to better identify protein cell machinery and mechanisms that are causing genetic diseases. The rare diseases cell map initiative is aimed at putting experts together through an online site by sharing data, expertise so as to contribute in the development of new rare disease treatments.

European News

Personalised Medicine Implementation on Europe’s agenda

This statement argues for the need to build a Personalised Medecine Europe Partnership to capitalize on the achievements already done to develop further and foster the promising approaches of Personalised Medecine (PM) in Europe. PM is presented as “a cross-cutting field, a central opportunity for the future of healthcare” is benefited to patients and citizens, and to healthcare optimisation. Researchers and healthcare providers agree on the great potential for PM regarding disease prevention, diagnosis and prevention, and are calling for European partnership to implement PM. Other countries, like China, Latin American, Caribbean, and African countries, will, in the coming future, be part of a collaboration with Europe on PM. ICPerMed, founded in 2016, is composed by over 40 European and non-European partners, including ministries, funding agencies, and the EC, and is coordinating the PM 2030 vision.

European transnational collaborations on health research and innovation cloud data

European healthcare systems are putting into place adequate programs to integrate digital information in the field of genomics, data sciences, sequencing and biomedical research. The Digital Transformation of Health and Care (Digicare) aims to build a decentralised and secure infrastructure. The next step is to put into place a European Health Research and Innovation Cloud (HRIC). Researchers identified following essential key elements for a strong and reliable structure: : (i) trusted standards and guidelines for cloud data in a decentralised system, (ii) highest standards interoperability and data security for the benefit of stakeholders, (iii) ethical and legal context and regarding GDPR EU, (iv) ensure trainings for new data and scientists professionals, and (v) transnational collaborations, research, and innovation through Europe. HRIC will strengthen cloud collaboration between Europe and international partners, for better computational system analysis. Transnational federated cloud data will help biomedical and bioinformatics professionals.

European Beating Cancer Plan

The EU Commissioner for Health and Food Safety, Stella Kyriakides, emphased in an interview the need for European collective collaboration to implement the Europe Beating Cancer Plan, for which preparatory work was launched on the World Cancer Day, on 4 February. She recalled that a new case of cancer is diagnosed every 9 seconds, making the disease, the second cause of death after cardiovascular diseases. Rare cancers are grouped into 14 families, including rare skin cancers, rare female genital cancers, rare male genital cancers, sarcomas, neuroendocrine cancers, rare digestive cancers, or pediatric solid cancers. 4,3 million of people are affected by rare diseases cancers in the European Union, and 500,000 new cases are diagnosed per year. 198 rare cancers representing 22% of cancer cases are diagnosed throughout Europe Union each year. In the United States, rare cancers are 20% of the cancers cases, and it is not easy to find treatments for rare diseases cancers in the country. The Commissioner highlighted required elements, policies, prevention, early diagnosis, equal access to the healthcare system, palliative care, quality of life for survivors, and e-health, that will lead to success in the implementation of the Europe Beating Cancer Plan, and will therefore contribute to the creation of a European Health Data Space.

Orphan Drugs

EURORDIS and NORD plead for expeditious research of Covid-19 treatments without orphan drug incentives

EURORDIS and the National Organisation for Rare Diseases (NORD) issued a joint statement calling for rapid development of Covid-19 treatments without the use of orphan drug incentives. EURORDIS called the EU not to follow the United States regarding orphan designation of Covid-19 treatments after the US Food and Drug Administration’s orphan drug designation of Remdesivir, a medicine used to treat Ebola virus and SARS and MERS coronavirus, which was subsequently withdraw.

Mexiletine case of misuse of orphan drug legislation

Interference of commercial interest with the healthcare system and the orphan drug legislation has consequences regarding patients with rare diseases’s access to treatment and the regulation of orphan drug prices. The recent case of the mixiletine is an illustration of the situation, with prices that varied from €17 000 to €85 000 within Europe depending on location and on doses, following the authorisation of mexiletine as an orphan drug by the European Medicines Agency (EMA) in December 2018 for non-dystrophic myotonia that caused the withdraw of the generic mexiletine. European healthcare systems have options to accept, deny or negociate the prices. The article, published in the European Heart Journal, highlights that the prevention of continued misuse of orphan drug legislation is a key concern and proposes realistic solutions.

Canadian health body and pharmaceutical society’ advocacy for rare diseases price reduction

An article in the Journal of Population Therapeutics and Clinical Pharmacology highlights the negotiation of the price for Drugs for Rare Disorders (DRDs), such as the drug for cystic fibrosis patients with specific gene mutations, by the pan-Canadian Alliance (pCPA) Pharmaceutical and the Canadian Agency for Drugs and Technologies in Health (CADTH) with manufacturers that led to a positive recommendation and successful price negotiation for 81.8 % of DRDs, from 2014 to 2018. In Canada, CADTH’s and pCPA’s advocacy has been shown to be successful in provinces where the government has put into place public drugs programmes. CADTH recommends that federal, provincial and territorial governments implement a comprehensive rare disease strategy for fast and equitable reimbursement of the DRDs and for adequate patient care.

Ethical, Legal and Social

Challenges concerning GDPR and secondary research on personal data

An article of the European Journal of Human Genetics highlights the challenges faced by secondary research on personal data and biospecimens shared in the international biobanking and databanking community following the implementation of the European General Data Protection Regulation (GDPR). By secondary research, experts refer to research on data or biospecimens collected for research studies and non-research studies, for example clinical care.

Amongst the challenges faced by secondary researchers on personal data in the context of EU’s GDPR is the treatment of anonymous versus pseudonymous data, and the current understanding of anonymised data and the way the research community is used to handling this type of data. Data in secondary research is key-coded (research subjects are assigned identifiers) and as this considered to be personal data, the research community has to comply with policy or formal agreement, and without a key, is impossible to deidentify or anonymise data and still allow for the follow-up of data subjects. Also, under the GDPR, pseudonymised data are considered as personal data. In biobanking research for example, key-coded data cannot be considered as not being personal data. In other regulatory regimes, for instance the United States (US), the US Health Insurance Portability and Accountability Act of 1996 (HIPAA), key-coded data can be deidentified or anonymised, and researchers can deidentify protected health data following advice of an expert who is able to ascertain that there is none or small risk to use the information, alone or in combination of other available information. The United Kingdom’s Health Research Authority does not consider pseudonymised data to be personal data.

Another challenge is the lack of a broad consent. Obtaining the consent of data subjects would solve the personal data issue, however in this area as well, while GDPR allows data subjects to consent to researchers using their data, there is a lack of a broad consent from EU and Member State regulatory agencies. Secondary research on health or genetic data are required to have a lawful basis according the Article 6 of the GDPR. Experts recommend that s special exceptions are introduced to allow ease use of personal data by the research community, including health data, in the case of scientific research. Such exceptions already exist, but are not yet applied to secondary use of personal data, like biobanking and databanking data. Other challenges are the collaboration between European Union research community and non-EU research community (GDPR requires a lawful basis for data transfer from the EU and outside the EU).

In conclusion, GDPR presents challenges for secondary research due to the absence of a clear basis on the way to proceed with personal data transfer, and the few existing regulations vary among EU Member States with significant costs. The European Data Protection Board (EDPB) guidance can help the research community in the anonymisation and the processing of personal data, and on cross-border transfer. The European Data Protection Supervisor, in a 2020 January opinion, called for a further guidance in 2020 with a focus on the relationship between data protection and scientific research.

Patient involvement in health research overcomes barriers

A study on rare cancers confirms that patient involvement in health research is increasing across the world, a statement backed up by the United States’ (US) Patient-Centered Outcomes Research Institute. The patient online study on angiosarcoma, a rare cancer, contributed to break barriers such as low incidence and the patient population’s geographic distance, and also created a greater impact on patients’ health and well-being. Patients and members of their families were involved in the design, the testing of its implementation and in refining the process of the study. The study was conducted in Canada, and in the US. 300 cases of angiosarcoma are recorded per year in the US.

Quality of life

Machine learning method for more quality of life scores for ultra-rare diseases

An article in the Orphanet Journal of rare diseases states that quality of life scores (QoL) was found to be a reliable way to monitor the clinical condition, health status and care satisfaction of patients with Alkaptonuria (AKU), an very rare disease, but there is still the need to implement a machine learning approach to perform QoL scores and to better study such ultra-rare diseases. In that vein, a database, ApreciseKUre, combining management and analysis, allows more effective treatments to be predicted

Data management

Real‐world evidence and real-world data’s important role in the regulation of rare disease decision making in the United States

The US Food and Drug Administration (FDA) is evaluating how to fully optimise Real-World Evidence (RWE) and Real-World Data (RWD) following the release of the framework of the RWE program. RWE and RWD are useful in the randomised clinical trials for rare conditions, and are also playing an important role in the regulation of decision making in rare diseases. Cerliponase alpha, asfotase alfa, and uridine triacetate were used to emphasise the necessity to improve existing data quality and data reliability for standardised data and the use of RWE and RWD. Three major lessons were noted and are related to the need of conducting a retrospective chart review (external control), the use of RWE and RWD for rare diseases drug development and approvals, and the need of patient involvement in drug development.

Epidemiology

Can mental disorders be considered as rare diseases?

In this article, authors are asking if it is possible to consider mental disorders with prevalence is less than 0.1%, as rare diseases. It is suggested that considering mental disorders within the optic of rare diseases could help evolve the treatment and research of mental disorders to a model that champions personalised medicine.

Summary of the edition of 30 April 2020

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