Edition of 27 November 2020

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Editorial

State of rare diseases patients’ access to safe and affordable medicines

The European Commission (EC) adopted on 25 November its ambitious Pharmaceutical Strategy for Europe to improve rare diseases (RD) patients’ access to treatment. The European Union (EU)’s new strategy aims at supporting innovation in the EU pharmaceutical strategy for Europe. The strategy also addresses equal access to safe, state-of-the-art and affordable medicines, digitalisation, and innovative therapies. Such a strategy is especially needed following the coronavirus health crisis, allowing Europe to cover its pharmaceutical needs, including in times of crisis, through robust supply chains.

The new EU pharmaceutical strategy will contribute to creating a future regulatory framework, to supporting industry and promoting research and technologies, and to addressing market failures. The new EU pharmaceutical strategy will also examine legislative and non-legislative action through four following objectives:

(i) Make sure that all patients in Europe, including RD patients, have access to therapies and new medicines quickly, and are not facing shortages,
(ii) Make medicines more affordable and that “value for money” of medical expenses is increased,
(iii) Ensure that digitalisation, innovation, emerging science and technologies are taken into account, and that therapeutic needs of patients and the reduction of the environmental footprint are as well fulfilled,
(iv) Reduce the dependance on raw materials from non-EU countries, work for harmonisation of international standards in terms of medicines quality and safety, and to make sure that European pharmaceutical companies have a prominent place regarding equal footing in the world market.

Prior to adoption, the European Commission launched an online public consultation on the new EU pharmaceutical strategy that closed on 15 September 2020. The new strategy is part of other EU initiatives, such as the new Industrial Strategy for Europe, the European Digital Strategy, the European Green Deal, and the Europe’s Beating Cancer Plan.

Work has already commenced work on various related areas and actions, with some areas already in an advanced state of reflection, such as the revision of the legislation on medicines for rare diseases and children. The Commission aims to present a proposal of revision of the pharmaceutical legislation in 2022.

Stella Kyriakides, Commissioner for Health and Food Safety, stated on the day of adoption: “Today we launch the work to ensure that safe and effective medicines are accessible and affordable at all times and to all patients across the EU. With our Pharmaceutical Strategy for Europe, we are delivering on our commitment to create a future-proof and patient-centred pharmaceutical environment in which the EU industry can innovate, flourish and continue to be a global leader. It is our long-term vision for open strategic autonomy, and our response to the challenges of today and the vulnerabilities exposed by COVID-19. Today we put in place another pillar of the European Health Union.”

EURORDIS has stated that the new EU Pharmaceutical Strategy will change the environment of RD treatments in terms of patient’s access to medicines in Europe (including transformative treatments), innovation and development. In its paper, EURORDIS recalled the current status of the access to medicines for RD patients (the need for RD patients to have same quality treatments as the general population), the past lessons, and the future priorities. For EURORDIS, new legislation would be an opportunity for further reflection within the rare diseases community to take advantage of and analyse what has already been achieved during the past two decades (the establishment of the Orphan Medicinal Products Regulation, a new ecosystem in developing treatments, cross-border collaboration, the development of RD patients organisations), and also to bring more attention to future actions.

EURORDIS emphasises challenges that are still a reality for the RD diseases community, especially in terms of access to medicines to RD patients and their families, with differences in access to treatments observed from a country to another in the EU.

EURORDIS hopes that the EU Pharmaceutical Strategy will bring three times more and better access to medicines by people living with a rare disease than at present. For EURORDIS, the Pharmaceutical Strategy has to address the inequalities in access to treatments for RD patients, and the investment needed in research for the development of new treatments. EURORDIS also highlighted that accessibility of treatments for people living with a RD will be part of the focus of the final recommendations resulting from the Rare 2030 Foresight Project.

Related to these issues, is the question of advanced therapies medicinal products (ATMPs) and their access by RD patients. A study on the state of ATMP development in the EU has been published, with the authors concluding that development of ATMPs for life-threatening diseases are rapidly increasing, but highlighting that high unmet clinical needs are still observed. The authors propose the optimisation of study methodology and innovative design to increase ATMPs’success in reaching the market.

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Spotlight

Remembering Prof. Dr. Gertjan van Ommen (1947 - 2020)

“Start your research with rare diseases. If they reveal their secrets, then you can extrapolate them to more common diseases with similar phenotypic features” – Prof Dr. Gertjan van Ommen

Orphanet regrets to announce the loss of our colleague and friend Prof. Dr. Gertjan van Ommen, on 7th November 2020. Gertjan was a key figure in the rare disease community and was coordinator of Orphanet Netherlands from 2010 to 2018, having previously worked on the FP7 project RD-Platform with the Orphanet team from 2008.

Gertjan leaves a lasting mark in the field of human genetics and genomics, a field in which he worked tirelessly in the pursuit of excellence, bringing his creative thinking, rigour and keen wit to the table. He was Professor of Human Genetics at Leiden University Medical Centre (LUMC), and the Head of Department of Human Genetics at LUMC from 1992-2012, and was also founder of the Leiden Genome Technology Center and Director of the Center for Medical Systems Biology.

His personal academic work focused on neurodegenerative and neuromuscular disorders such as Huntington’s disease and Duchenne muscular dystrophy, playing a main role in discovering treatments for these diseases; under his supervision, the antisense-mediated exon skipping therapy approach for Duchenne muscular dystrophy was pioneered and brought into a first clinical trial at LUMC. During his career Gertjan was a was involved in the application of genome research and diagnostic technology in both the research and clinical contexts, and he always kept in sight the impact of genetic and genomic advances on society. He was also a key force in national and international research infrastructures in the human genetics field, in particular biobanking.

Many of our readers will also have known him as Editor-in-Chief of the European Journal of Human Genetics, past president of the Human Genome Organisation (1998-2000), and of the European Society of Human Genetics (2003-4) and Dutch Society of Human Genetics (1993-2000) and member of several committees in the fields of genetics, genomics, biobanking, intellectual property issues, and ethics. During his retirement, Gertjan continued was actively involved in the area of biobanking and continued to lead the EJHG from strength to strength. In the past years he was a champion of the 1+ Million Genomes Initiative, and dedicated time to fostering collaboration at European level towards the implementation of genome-based health.

Our colleagues at Orphanet Netherlands, Judith Carlier - de Leeuw van Weenen, Wendy van Zelst-Stams, Martina Cornel, Petra van Overveld, had these words to share: “Gertjan started in Leiden with unraveling the genetic defects of Duchenne muscular dystrophy and soon became an expert on rare diseases in general. He advocated to ‘focus on everything’. Lessons from rare diseases could be used for common conditions. Lessons from the health care services for one rare disease in one country could be used elsewhere. In his nine years as a national coordinator of Orphanet Netherlands, he was a figurehead and inspiration for us.

Even after his retirement from Orphanet Netherlands, years after his official retirement, he stayed on top of everything until the end. His contribution for the rare disease field in the Netherlands and worldwide, always with enthusiasm and creative quotes, has been immense. He always saw the patient behind the scientific question and understood the importance to bring together all different stakeholders in the rare disease field. We will remember him as an excellent translational scientist that always pushed us, with humor, to think out of the box. We will miss him.”

Gertjan's legacy will also be found in the inspiration and mentoring he provided over the years to many colleagues and young researchers around the world, instilling in those he worked with a passion to improve healthcare and to make sure scientific discoveries lead to better outcomes for patients.

The rare disease community and the Orphanet family have lost a tremendously valued member. He will be dearly missed. We extend our sincerest sympathy to his family and friends at this time and invite those who wish to do so to leave a message of condolence for his family and friends.