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Edition of 21 October 2021

International News

Australia: Government announces Five Year Strategic Agreements with the Medicines Industry

The Australian Government has announced two new Strategic Agreements with Medicines Australia and the Generic and Biosimilar Medicines Association (GBMA) covering the period from 1 July 2022 to 30 June 2027. The agreements aim at extending and improving access to new medicines as well as reviewing Australia’s Health Technology Assessment. The HTA review will echo the recommendations made by the Australian Parliamentary Inquiry into approval processes for new drugs and novel medical technologies, which the rare disease community contributed to. The fact sheet of the HTA policy and methods review indeed includes developing methods for evaluating rare diseases for reimbursement and alternative funding pathways.

European News

Towards a reform of EU's pharmaceutical legislation

The EU Commission has launched an online public consultation on the revision of EU’s pharmaceutical legislation as part of the Pharmaceutical Strategy for Europe reform adopted in November 2020. The Pharmaceutical Strategy for Europe aims at creating a regulatory framework and supporting industry in promoting research and technology to fulfil patients’ therapeutic needs. The priorities of the Strategy include ensuring access to affordable medicines for patients and addressing unmet medical needs, notably in the area of rare diseases. The consultation is open until 21 December 2021 and aims at gathering the opinion of the general public and stakeholders on their needs and priorities in order to evaluate and revise EU’s general legislation on medicines for human use.

Set of measures to evaluate patient engagement in the European Reference Networks

A new study has been published in the Rare Disease and Orphan Drugs Journal on patient engagement in the European Reference Networks. The study aims at developing tools to assess the impact of patient engagement in the ERNs while showing the value of patient-clinician partnerships. The study has allowed the development of a set of goals to assess patient engagement in the ERN in a patient-driven evaluation framework. These goals include improving quality of care, diagnosis and treatment of rare diseases, ensuring patient-centric ERNs as well as ensuring a good level of awareness on ERNs among the patient community. In order to make this framework the most relevant, the study highlights the need for ERN clinicians’ participation to better capture the different ERNs’ specificities.

Italy: Fondazione Telethon and UILDM, a successful partnership for neuromuscular healthcare research

A new study has been published in the Orphanet Journal of Rare Diseases on the successful partnership between the Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare (UILDM) in the field of neuromuscular healthcare research. The study shows that the funds awarded within the Telethon-UILDM calls have contributed to the creation and expansion of a network of physicians who actively collaborated and adopted a common medical research approach to neuromuscular diseases, allowing increased clinical knowledge and international attention on these diseases. This Italian clinical network has facilitated the development of innovative therapies for neuromuscular diseases at the global level. The study thus reveals that collaborations between patient organisations and charities and other stakeholders might contribute to the promotion of clinical research dedicated to rare disease patients.

Norway: New national strategy for rare disorders

On 10 August 2021 the Norwegian Ministry of Health published a national strategy for rare disorders. The strategy includes ten action points to be followed up by the regional health authorities together with the Directorate of Health and the Directorate of eHealth. In Action point 6 the ORPHAcodes will be evaluated together with SNOMED-CT and ICD-10/11 to find the best solution for coding of rare disorders such that diagnostics, treatment, research and knowledge development is strengthened. In Action point 7 the regional health authorities will evaluate the need for a national registry for rare disease patients, based in the already established Norwegian Rare Disorder Registry at the National Advisory Unit on Rare Disorder at Oslo University Hospital. The regional health authorities are also required to facilitate participation of Norwegian professionals in the European Reference Networks (Action point 4).

Read more (in Norwegian)

Poland: Awareness of rare diseases among physicians

A new study has been published in the Orphanet Journal of Rare Diseases aiming at evaluating the awareness of rare diseases among physicians in Poland. The study, based on a questionnaire aimed at Polish physicians, reveals that most of them lacked basic knowledge about the aetiology, epidemiology and prevalence of rare diseases. While the vast majority of the respondents perceived their knowledge on rare diseases as insufficient and felt unprepared to care for rare disease patients, they were also interested in broadening their knowledge and thought mandatory courses on rare diseases should be included. The study thus highlights the urge to fill the gap in physicians’ knowledge on rare diseases and include extra courses in this field in their curricula, including e-learning programs.

Health Economics

Participant-funded clinical trials on rare diseases

A new study has been published in the Annals of Pediatrics magazine on participant-funded clinical trials on rare diseases in Spain. The study aims to analyse the scientific, social, ethical benefits and risks of self-funded clinical research, as well as to explain the controversial aspects of crowdfunding for the development of orphan drugs. The study highlights that while the use of crowdfunding in biomedical research is controversial, it could play a role in the early phases of development of certain orphan drugs, as crowdfunding campaigns are frequently successful.

Orphan Drugs

FDA finalises guidance on Orphan Drug “sameness” of gene therapies

The FDA Office of Orphan Drug Development has published its final guidance entitled “Interpreting Sameness of Gene Therapy Products Under the Orphan Drug Regulations”. The document addresses the issue of “sameness” in gene therapy products regarding the orphan-drug designation process and exclusivity. For orphan drugs, sameness with another existing orphan drug would prevent a therapy from obtaining approval from the FDA. In this document the FDA defines sameness of gene therapy products and states that when determining “sameness” under the orphan drug regulations, the agency will consider two gene therapy products intended for the same use or indication to be different if they express different transgenes, whether or not they have or use the same vector; or have or use different vectors, including vectors from a different viral class, even if they express the same transgene. The FDA also reveals that it will consider two gene therapy products from the same viral group are the same or different “on a case-by-case basis.”

Orphan Drugs, compounded medication and pharmaceutical commons

A new study has been published in the Frontiers in Pharmacology journal on orphan drugs, compounded medication and pharmaceutical commons. The study establishes a list of food-related ingredients with clinical evidence for rare diseases in the open medical literature that obtained marketing authorisation as an expensive orphan drug, protected by intellectual property (IP) rights. The study reveals that these ingredients are part of an established practice of medicinal compounding and should be considered as pharmaceutical commons, and that regulatory incentives for private companies and market protection mechanisms such as IP rights are not justified in this case.

Cost, access, and adoption of novel cardiovascular drugs in clinical practice

A new study has been published in the Current Cardiology Reports on the cost, access, and adoption of novel cardiovascular drugs in clinical practice. The study highlights that while novel therapies have promising outcomes for patients with cardiovascular diseases, they often come at high prices which limits their access for patients. The study suggests that systemic cost-effectiveness analysis from the healthcare sector can help reduce drug prices and thus allow wider access, and that clinicians should offer lower-cost alternatives for patients when possible.

Ethical Legal and Social

Parents’ anxiety before and after the diagnosis of their child with a rare genetic disease

A new study on the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease has been published in the Orphanet Journal of Rare Diseases. The study reveals that anxiety levels of parents decrease after learning the diagnosis. The study suggests that clinicians can help reduce parents’ anxiety by explaining expected difficulties regarding their child’s disease and that early psychological and social support is necessary. This support will also benefit the treatment process, as it will help increase patient compliance.

Social determinants of health and primary immunodeficiency

A new study on the social determinants of health and primary immunodeficiency has been published in the Annals of Allergy, Asthma & Immunology. The study aims at reviewing the current knowledge of the social determinants affecting infectious susceptibility, genetic predisposition, diagnosis and treatment of inborn errors of immunity. The study reveals that high consanguinity rate and reduced access to preventive measures increase the burden of immunodeficiencies in many low and medium income countries. Poor access to diagnostic and treatment in these regions further affects patients’ perspectives. Increased awareness among healthcare professionals and the public, and increased collaboration with Western countries might help in the diagnosis of these conditions. Further advancements require improved public funding for the prevention, diagnosis and treatment of inborn errors of immunity.

Quality of life

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents

A new study has been published in the Orphanet Journal of Rare Diseases on the qualitative perspective of adolescents, adults and parents affected by the Barth Syndrome in the United Kingdom. The study aims to explore patients’ self-regulation,coping strategies and inter-personal responses. The study highlights that children and parents tend to share a coherent view of the Barth Syndrome, including parents being aware that their child had a limited energy reserve and that had to be managed. The study however reveals that there is a need for greater awareness from people outside the family, notably within the wider context of social and employment networks to minimise negative impact on the quality of life of patients with Barth syndrome.

Executive functions and quality of life in children with neurofibromatosis type 1

A new study has been published in the Orphanet Journal of Rare Diseases on the executive functions and quality of life in children with neurofibromatosis type 1. The study reveals that as perceived by parents and children themselves, executive functions deficits have a significant impact on the quality life of children with neurofibromatosis type 1. The study found that patients’ school environment and social integration seem to be significantly impacted, as executive functions play a crucial role in psychological development, and should therefore be targeted in the management of the disease.

Improving patient-reported outcome measures in late-onset Pompe disease

A new study has been published in the Orphanet Journal of Rare Diseases concerning outcome measures in late-onset Pompe disease. The study aims at developing a conceptual model that captures the most relevant symptoms and functional limitations experienced by patients with late-onset Pompe disease and to inform the development of new patient-reported outcome measures based on interviews conducted with patients. The study reveals that muscle weakness, fatigue, pain, and breathing difficulties were the most common and highly disturbing symptoms experienced by patients. The most frequently reported impacts on the patient’s daily life were limitations associated with mobility and reduced ability to participate in day-to-day activities.

The impact of demographic and clinical characteristics on quality of life among patients with Fabry disease

A new study on the impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease has been published in the Orphanet Journal of Rare Diseases. The study reveals that quality of life of patients remains stable over 13 years. However, above 47 years old, males with small fibre neuropathy and decreased renal function and a history of cerebrovascular events may experience lower physical quality of life outcomes. The study also shows that early identification of declining quality of life may reveal opportunities to improve outcomes.

Registries and biobanks

Tatton Brown Rahman Syndrome Community Patient Registry

The Tatton Brown Rahman Syndrome Community and the National Organisation for Rare Disorders (NORD) have launched a large study to help research on the Tatton Brown Rahman Syndrome. The new study, Tatton Brown Rahman Syndrome Community Patient Registry, creates a platform for patients around the world to share information about the disease. Its purpose is to build an international resource to be used by scientists in future research and to connect patients.

Data management

TEHDaS examines European data sharing initiatives

The new report of the Joint Action Towards the European Health Data Space (TEHDaS) examines technical solutions for sharing and using health data in the European Union. The report shows the differing approaches of the European initiatives in terms of data sharing but also identifies common patterns in the initiatives, such as electronic health records, prescriptions and laboratory results.

BD4BO’s recommendations for the European Health Data Space

The Big Data 4 Better Outcomes programme has published recommendations regarding the creation of the European Health Data Space (EHDS) as proposed by the European Commission in its priorities for 2019-2025. These recommendations include sharing the outcomes of care and treatment achieved through the generated data, which will help build trust with citizens. The programme also recommends to build on the HDS on the existing European data sharing infrastructures, to avoid duplication. According to the programme, incentives would be helpful to convince EU countries homogenising their health digitalisation practices while the EHDS governance structure needs to be flexible to cope with the different national models. Finally, the recommendations include codes of conduct to help explain EU’s data privacy regulation to certain sectors.

ELIXIR report on Open Data for innovation

ELIXIR has published its latest report entitled “Open data: A driving force for innovation in the life sciences". The report provides an analysis on the benefits of open data to industry and innovation, thorough survey, testimonials, and analysis of the hotspots of European innovation. The survey conducted shows the importance of open data for innovation and how the pharmaceutical companies benefit from it. The report notably states that respondents predominantly found that the open data available on Orphanet’s website helped their life-science business.

Bioinformatics and biotechnology

Report on policy and access environment across European countries for SMA

SMA Europe and Biogen have launched the Spinal Muscular Atrophy Policy and Access Tracker which provides an assessment on the performance of 23 European countries in terms of access to Spinal Muscular Atrophy treatment, care and supporting policies for patients. The study provides policy recommendations to tackle existing gaps, notably in terms of diagnosis and access. The study highlights the need for political leadership and policy to put rare diseases high in the political agenda. The study also reveals the need to improve the healthcare system preparedness in some countries to ensure availability of patient-level data and access to centres of excellence and it encourages nationwide Spinal Muscular Atrophy newborn screening to ensure early disease detection, as well as ensuring timely and affordable patient access to treatment and care.

Summary of the edition of 21 October 2021

Editorial
- Editorial
- European Reference Networks
Political news
Scientific news
And also...