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Edition of 10 May 2021

European News

European Health and Digital Executive Agency to operate as from 1st April

The European Health and Digital Agency (HaDEA),established on 16 February 2021 in Brussels, started to operate as of 1 April 2021 as the new body in charge of the financial management of key EU programmes including the EU4Health programme (€5,1 billion), Horizon Europe: Pillar II, Cluster 1: Health: (€5,4 billion), and the Food safety side of Single Market Programme (€1,3 billion). Among other health programmes monitored by the European Health and Digital Agency (HaDEA) are the Digital Europe Programme (€0,8 billion), Connecting Europe Facility: Digital (€1,7 billion) and Horizon Europe: Pillar II, cluster 4: Digital, Industry and Space (€6,1 billion).

EJP-RD : Online course on diagnosing rare diseases from the clinic to research and back

The European Joint Programme on Rare Diseases has launched an academic education course on rare diseases research topics, coordinated by the Foundation for Rare Diseases, one of the EJP RD partners. The first course on the diagnosis in the rare disease context is designed for medical students and PhD/post-doc students in biomedical sciences, patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare disease diagnosis. The course will last 5 weeks to learn more about rare genetic disease diagnosis and testing, the impact of technology in diagnostic research, and gain insights into patients’ experiences of rare genetic disease.

European Medicine Agency : Call for expression of interest - Data Standards Strategy survey and workshop

The European Medicines Agency called for expressions of interest to participate in the Data Standards Strategy Initiative, launched by The Big Data Steering Group, by providing feedback through a survey and taking part in the virtual data standards workshop scheduled on 18 May. This call for expression of interest was dedicated to patients’ and healthcare professionals’ organisations or Learned Societies.

The Data Standards Strategy Initiative aims to enable the Network to more effectively leverage data to deliver evidence in support of benefit-risk decision-making on the development, authorisation and use of medicines. The joint European Medicines Agency (EMA) and Heads of Medicines Agencies (HMA) Big Data Steering Group advises the EMA Management Board and HMA on prioritisation and planning of actions to implement the ten priority recommendations of the Big Data Task Force.

The survey aimed to gather input regarding the application and use of Data Standards within the EU Regulatory Network. The results of the survey closed on 23 April 2021 and use cases received were integrated into a draft Data Standards Strategy document aimed to define a roadmap for the development and implementation of data standards. This strategy will be presented and discussed during a virtual workshop on 18 May 2021.

RDCA-DAP webinar series on the value of integrated data and analytics in rare disease drug development

A new webinar series has been launched by the Rare Disease Cures Accelerator–Data and Analytics Platform. These webinars are dedicated to stakeholders from the industry, academic researchers and research-based non-profit organisation leaders, and aim to share with the community examples of the use of rare disease person-level data in drug development and regulatory decision making. The webinars will be held on the third Wednesday of each month at 12 pm and will last one hour.

VISION-DMD White Paper on returning individual clinical trial results back to patients

A white paper on how to return individual clinical trial results back to patients has been published by VISION-DMD, an advanced and innovative clinical programme to develop a safe, effective and affordable therapy for Duchenne Muscular Dystrophy. This white paper aimed to address the ethical and technical challenges, using the vamorolone clinical trial experience. This white paper highlights several challenges and barriers, proposing a framework to return clinical trial data and revealed that individual patient data were not returned to the participants of clinical trials, even when this was requested. This white paper reported on a pilot framework for returning trial data and aggregate data that allows a participant to compare their individual results with their dose group and overall trial.

Launch of a global collaborative social network, Share4Rare, to promote citizen science in rare disease research

A new study on global collaborative social network to promote citizen science in rare disease research has been published in JMIR Formative Research. This new collaborative social network, entitled Share4Rare, is a global secure community of rare disease patients, with publicly accessible information and a research section aiming to collect patient information for further analysis. The core value of this platform is to promote international research. This platform was designed with consultation and input through workshops from patients, caregivers, clinicians, and researchers. The codesign methods with patients provided a patient-centric design to facilitate the donation of clinical information to foster research dedicated to patients with rare diseases.

Survey on patient organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe

A new study published in the Orphanet Journal of Rare Diseases aimed to evaluate the state of play of screening for inherited rare neuromuscular diseases in Europe and patients' needs. The patient advisory board of the European Reference Network for Rare Neuromuscular Diseases (NMD) conducted a survey on patient organisations' knowledge on screening for inherited neuromuscular diseases in Europe with 30 patient organisations (POs) from 18 European countries. This study revealed that most patient organisations were in favour of systematic screening with the option to opt-out and identified early access to treatment as the main priority to perform screening for NMDs. This study highlighted the need of an international coordination leading to a common policy to harmonise the screening for inherited neuromuscular diseases amongst European countries.

Position statement from EuroSoftCalc.Net group on the role of patient associations in connective tissue calcifiying diseases

A new study on the role of patient associations in connective tissue calcifiying diseases, as defined by the EuroSoftCalc.Net COST Action, has been published in the Orphanet Journal of Rare Diseases. The EuroSoftCalc.Net COST Action is a group of clinicians and researchers involved in the dystrophic calcification process. This study revealed that disparities in health care between European Union countries and highlighted the need of the creation of new patient associations and the release of diagnosis and follow-up guidelines, and particularly where no multidisciplinary consultations are available.

IMI Scientific Committee experts: How Europe can get better at treating rare diseases

In order to address problems in rare disease research, recommendations from the experts of the IMI Scientific Committee were defined. Among these recommendations, digital tools, such as smartphones, apps, wearables, and online platforms could enable patients to lay interpretations of scientific research, find specialists or sign up to participate in clinical trials. Moreover, high-performance computational capabilities and biomedical data could be used to create new models of the natural history of rare diseases, and existing tools carrying out drug screening, DNA sequencing, newborn screening, and providing virtual cohorts to evaluate drug efficacy. Finally, the IMI Scientific Committee also recommended to provide value judgements about new technologies in rare diseases to determine the real burden of a disease on the community and the health service and public-private partnership to enhance rare disease research forward.

European Alliance for Newborn Screening for Spinal Muscular Atrophy : New whitepaper on "Spinal muscular atrophy, screen at birth, save lives"

The European Alliance for Newborn Screening for Spinal Muscular Atrophy, composed of European patient organisations, academics and the pharmaceutical industry, has published the whitepaper, entitled “Spinal muscular atrophy: screen at birth, save lives”. This whitepaper aims to call all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025. This white paper highlights the need of policy decisions on newborn screening for people living with rare diseases, like spinal muscular atrophy, as well as their closest families. In this purpose, the European Alliance for Newborn Screening for Spinal Muscular Atrophy seeks to foster the introduction of universal newborn screening for spinal muscular atrophy in Europe and inform a systematic dialogue within European healthcare systems, including healthcare experts, policymakers and patient advocates.

Germany: Supportive care needs of patients with rare chronic diseases

A new study on supportive care needs of patients with rare chronic diseases has been published in the Orphanet Journal of Rare Diseases. This study aimed to assess supportive care needs in patients with chronic rare diseases in Germany using validated self-report scales and open-ended questions. This study revealed significantly higher unmet supportive care needs in patient with rare diseases compared to patients with cancer. This study highlighted unmet support needs in multidisciplinary care, including psychological support and the provision of information regarding the healthcare system, treatment options, disease course and sexuality.

United Kingdom: Experience of health care at a reference centre as reported by patients and parents of children with rare conditions

A new study on the experience of health care at a reference centre as reported by patients and parents of children with rare conditions has been published in the Orphanet Journal of Rare Diseases. This study aimed to assess the experience of clinical care based on a survey completed by 134 patients and parents with rare disease at a tertiary children's hospital between 2018 and 2020. This survey revealed that 85% of respondents had received a formal diagnosis, 20% in the 6 months of developing symptoms, and 20% within 1 to 3 years. Concerning the provision of information, 53% of respondents expressed that they received little or no information around the time of diagnosis. 69% of respondents were satisfied with the healthcare team, whereas 25% of respondents were informed about life-limiting conditions of their children and only 17% of respondents received specialist support.

United Kingdom: An exploratory qualitative interview study on the impact of care coordination on patients and carers

A new study published in the Orphanet Journal of Rare Diseases aimed to assess the impact of care coordination on patients and carers in the United Kingdom based on interview conducted with 15 patients and carers or parents. This study highlights the evidence of impacts of uncoordinated care, such as uncoordinated appointments and ineffective communication between key stakeholders, resulting in delays to accessing care and additional burden such as impact on physical health, financial and psychosocial impact. Patients and their carers expressed the need of support from a professional to coordinate care, a multi-disciplinary team work, and improved communication through the use of technology.

International News

Canada : Stakeholder perspectives on clinical research related to therapies for rare diseases

A new study published in the Orphanet Journal of Rare Diseases assessed why and how patients and families with rare metabolic diseases, specialist metabolic physicians, and health policy advisors choose whether to participate in clinical studies and how they value research. In this purpose, separate focus groups were conducted with each stakeholder group. This study revealed that the perspectives of the stakeholders differ on rare disease clinical research but that the stakeholders have similar concerns about the risks versus benefits of therapies. The main reason for patients and caregivers for participating in clinical research included advancing science for the next generation and having an opportunity to share their experiences, whereas gaining access to treatment was not the main motivating factor. As regards treatments not well-supported by evidence, patients and physicians described difficulties in the evaluation of risks versus benefits of treatments. Thus, physicians expressed difficulties in their role as patient advisor and evaluator of the evidence and policy advisors were focused on the assessment of the evidence in regards to the recommendations for the health system.

United States : Clinical sites of the Undiagnosed Diseases Network contributions to genomic medicine and science

A new study published in Genetics in Medicine assessed the contributions of the NIH Undiagnosed Diseases Network (UDN) relative to standard clinical practices, based on a retrospective analysis on 791 evaluated individuals from four UDN clinical sites from July 2015 to September 2019. This study highlighted the investigations driven by the clinical sites related to diagnostic and research exceeded standard diagnostic processes. Among the 791 evaluated individuals, 231 received 240 diagnoses and 17 new disease-gene associations were identified. Diagnoses on UDN exome and genome sequencing occurred in 35%, additional UDN-driven investigations occurred in 65% with complementary phenotyping, innovative analyses of genomic variants, and collaborative science for functional assays and animal modelling. This study showed that UDN contributed to genomic medicine and science.

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Health Economics

Value-based decision-making for orphan drugs with multiple criteria decision analysis

A new study published in Current Medical Research and Opinion aimed to assess the value of burosumab versus conventional therapy for the treatment of paediatric X-linked hypophosphatemia, through a multi-criteria decision analysis (MCDA) framework for health technology assessment (HTA) of orphan medicinal products in Portugal. Burosumab and conventional therapy were assessed with global value score and reimbursement likelihood against 14 criteria related to disease burden, therapeutic value and economic burden. This study highlighted that MCDA was a powerful tool in HTA decision-making for orphan medicinal products and showed that burosumab is superior to conventional therapy for the treatment of paediatric X-linked hypophosphatemia.

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

A new study published in the Orphanet Journal of Rare Diseases aimed to assess the economic burden of spinal muscular atrophy (SMA1) and economic evaluations of treatments through a systematic literature review. This study revealed a substantial cost burden of standard of care with an average annual cost of SMA1 from $75,047 to $196,429 per year and for the later-onset form: SMA2, SMA3, and SMA4 from $27,157 to $82,474 and confirmed the high cost-effectiveness ratios of the approved drugs, nusinersen and onasemnogene abeparvovec. The evaluation of the incremental cost-effectiveness ratio (ICER) of nusinersen compared to standard of care in SMA1 was between $210,095 and $1,150,455 per quality-adjusted life years (QALY) gained and that for onasemnogene abeparvovec between $32,464 and $251,403.

Medical database analysis of Japanese multiple myeloma patients with planned stem cell transplantation

A new study published in the International Journal of Hematology aimed to assess the burden associated with stem cell mobilisation, with or without cyclophosphamide (CPA), in patients who intended to receive autologous stem cell transplantation (ASCT) for multiple myeloma (MM) between 2013 and 2016 in Japan. This study showed that more patients with multiple myeloma were treated with granulocyte-colony stimulating factor (G-CSF) and cyclophosphamide than G-CSF alone. This study revealed a direct cost of 1.2 million yen during the mobilisation phase and 2.3 million yen during the autologous stem cell transplantation phase.

Orphan Drugs

Small cell lung cancer : A slightly less orphan disease after immunotherapy

A new study on immunotherapy in small cell lung cancer has been published in the Annals of Oncology. This study provided a summary of recent therapeutic advances in small cell lung cancer with immune checkpoint inhibitors to improve overall survival, and challenges in elderly patients. This study revealed that atezolizumab or durvalumab in combination with platinum-etoposide chemotherapy is the standard of care as the first-line treatment, although the efficacy of this immune-chemotherapy strategy may depend on the immunosuppressive phenotype of small cell lung cancer. This review showed that the efficacy of this immune-chemotherapy strategy in small cell lung cancer is inferior than that observed in metastatic non-small-cell lung cancer patients, and presented the perspectives of immunotherapeutic strategies in clinical development.

Orphan drug designation and development in Japan : 25 years of experience and assessment

A new study on Orphan drug designation and development in Japan has been published in Nature Reviews Drug Discovery to provide an overview of key trends on 25 years from the 1993 to 2018. This study highlighted that the Orphan Product Development Support Program has successfully promoted drug development for rare diseases in Japan in the past 25 years, which was launched in 1993 to promote the development of therapies for rare diseases, including financial subsidies for research, market exclusivity and prioritized scientific review. This study revealed that a total of 463 orphan drugs were designated and 75% of them were approved for marketing. The oncology drugs area and the central/peripheral nervous system drugs area are the two most common defined areas for orphan drug designation. In this period, the proportion of approved orphan drugs out of those granted designation increased and was higher than that in the USA and in the Europe Union, due to the criterion in the Japanese programme regarding the possibility of product development.

The market expansion of eculizumab

A new study on the dynamics of the eculizumab patenting, orphan designation, and marketing authorisation process in different countries, including the US, Europe, Japan, and Brazil, has been published in PLoS One. This retrospective study revealed that eculizumab has always been an orphan drug, with a first patent filed in the US by Alexion Pharmaceuticals, Inc., except in the Brazilian regulatory agency. This study highlighted that a market access strategy focused on orphan drug designation, extended therapeutic indications and additional geographic range of marketing approvals, allowing to extend monopoly periods, and prioritised public procurement niches lead to increased revenues of Alexion Pharmaceuticals to more than US $25 billion between 2007 and 2019, the drug accounting for 79.1% of all revenues in 2019.

Analysis of patient access to orphan drugs in Turkey

A new study on the analysis of patient access to orphan drugs in Turkey has been published in the Orphanet Journal of Rare Diseases. This study aimed to determine the accessibility status of orphan drugs identified by the EMA in Turkey. This study revealed that out of 105 drug approved with orphan drug status by January 2020, 71 drugs were available in Turkey. Most of orphan drugs were identified as antineoplastic and immunomodulatory agents. Among drugs available in Turkey, 32% were licensed in Turkey and 74% of licensed products were reimbursed. This study highlighted the need of orphan drug incentive policy to ensure an early access to orphan drugs.

First oral treatment for spinal muscular atrophy (SMA) recommended for approval

EMA (European Medicine Agency) has recommended granting a marketing authorisation in the European Union for the first treatment that can be given orally to patients with certain types of spinal muscular atrophy (SMA), Evrysdi. As part of its recommendation for marketing authorisation, the CHMP requested that the company performs a post-authorisation efficacy study (PAES): a long-term prospective, observational study to further evaluate disease progression in SMA patients (both pre-symptomatic and symptomatic) with 1 to 4 SMN2 copies treated with risdiplam, in comparison to natural history data in untreated patients.
Evrysdi is indicated for the treatment of 5q SMA in patients 2 months of age and older, with a clinical diagnosis of Type 1, Type 2 or Type 3 SMA or with one to four SMN2 copies. EMA’s recommendation is based on two clinical studies, one investigating the effects of Evrysdi on patients with infantile-onset SMA and the other on later-onset SMA.
Evrysdi has been developed as a non-invasive oral treatment that can be used at home. It was accepted into PRIME, a support scheme EMA developed for promising new medicines that address an unmet medical need. Representatives of patient organisations were also consulted during the assessment of benefits and risks of Evrysdi to bring their unique real-life perspective and ensure that patients’ needs are taken into account in the regulatory decision-making process.

Precautionary marketing suspension of thalassaemia medicine Zynteglo

The sales of the gene therapy medicine Zynteglo, indicated for the treatment of the rare blood condition beta thalassaemia, has been suspended by the company Bluebird Bio pending investigation of a safety concern. Buebird bio notified the EMA that a related medicine being developed, using the same technology as Zynteglo, may have been associated with a case of cancer. Although no cases of cancer have been reported with Zynteglo itself, the company suspended marketing of Zynteglo until the possibility that the same risk might apply to the licensed medicine has been investigated. Zynteglo was granted conditional marketing authorisation on 29 May 2019 and was currently only marketed in Germany.

Quality of Life

Results of a patient reported experience measure evaluating the rare disease patients and caregivers experience

A new study published in the Orphanet Journal of Rare Diseases aimed to assess for the first time the rare disease patients and caregivers experience in Spain in order to identify objectives for optimal care. This study involved 261 patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER) and caregivers. This study revealed that the mean time since confirmation of diagnosis was 7.8 years, and the score in the instrument used to evaluate the chronic patient experience was 3.5 points out to 10.

Patient and family experience with transthyretin amyloid cardiomyopathy and polyneuropathy amyloidosis

A new study on patient and family experience with transthyretin amyloid cardiomyopathy and polyneuropathy amyloidosis has been published in the Orphanet Journal of Rare Diseases. This study aimed to describe the diagnostic process, symptoms, and impact on quality of life experienced from patient and their family based on focus group. This study revealed that patients with transthyretin amyloid cardiomyopathy and polyneuropathy amyloidosis often underwent a long diagnostic odyssey characterised by nonspecific physical manifestations, suboptimal care, and delays in establishing the correct diagnosis. This study highlighted the need of increased education for primary care and specialists physicians, access to mental health support and engagement with advocacy organizations. This study showed that input from patients and their representatives are necessary to design clinical trials, increase the availability of genetic testing, and generate natural history and qualitative studies.

Bioinformatics and biotechnology

Disease monitoring programs of rare genetic diseases

A new study on disease monitoring programs of rare genetic diseases has been published in the Orphanet Journal of Rare Diseases. This study aimed to present Disease Monitoring Programs (DMPs) as an alternative to traditional registries for rare neuromuscular diseases. Disease Monitoring Programs (DMPs) were designed to monitor disease manifestations over a 10-year period. This study highlighted that this collaborative model for post-marketing follow-up including physicians and patients, but also sponsor of drug development, ensured consistent collection, ownership sharing and governance of data.

The Broad Institute of MIT and Harvard has launched a major initiative to support machine-learning-powered research into the life sciences

A new initiative to support machine-learning-powered research into the life sciences has been launched by The Broad Institute of MIT and Harvard. This initiative was supported by a $150 million endowment from Eric and Wendy Schmidt, the former Google CEO and his wife, and an additional $150 million contribution from the Broad Foundation. The launch of the Schmidt Center aims to develop a global network connecting academic and industry researchers across multiple scientific disciplines to improve human health. The adoption of big data and cloud computing in healthcare research and development, and the dramatic advances in generating data through next-generation DNA sequencing, single-cell genomics, and advanced medical imaging inspired the creation of the Schmidt Center. The convergence of these two field aims to create a new era of biology with a deep understanding of biological processes leading to more powerful disease prevention, diagnosis, and treatment.

Summary of the edition of 10 May 2021

Editorial
Political news
Scientific news
And also...