We are excited to unveil OrphaNews' new look! Both the email and web presentations of the newsletter have been updated for a more modern feel and smoother user experience which aligns with Orphanet's "Know the Rare for Better Care" visual identity. Look around our website to discover all the new features!
We hope you are all having a relaxing summer vacation! The next edition of OrphaNews will be released in September.
A new article has been published in the Orphanet Journal of Rare Diseases detailing the experience of Italian health care providers (HCPs) within the European Reference Network (ERN) EURO-NMD, who were trained in using the Clinical Patient Management System (CPMS) as part of a pilot project.
CPMS is a web-based platform used by the ERNs to facilitate data sharing and promote active collaboration within and between networks. It can be used to securely make patient data available for storage in registries and databases, as well as providing a forum for clinicians to discuss specific cases. It is a key part of fulfilling the ERNs’ mission to provide all patients across Europe with access to expert specialised care.
Despite the importance of CPMS to ERN activities, there is still a significant level of heterogeneity in clinicians’ level of comfort using the platform. In order to enable HCPs to take full advantage of the opportunities presented by CPMS, a 12-month pilot project was implemented in the ERN EURO-NMD to deliver tailored, hands-on training to clinicians.
Overall, results from the pilot demonstrated that a tailored, ERN-oriented training curriculum is a successful and promising strategy to significantly enhance the knowledge of CPMS and to implement its use in daily practice. Based on these findings, the authors recommend designing and developing similar courses for other ERNs, keeping in mind their specific fields of expertise, in order to optimise the use of CPMS across all the networks.
Recently, members of the ERN-EuroBloodNet published a Viewpoint describing the network’s role in improving the management and care of individuals with sickle cell disease in the EU.
The authors identify a number of challenges currently facing public health authorities, policy makers, and clinical researchers alike in their approaches to sickle cell disease. There exists a significant need for specific services, such as transition care for patients ageing out of paediatric services, and special care for newly arrived migrants. Additionally, there is a lack of epidemiological data available on the disease at the EU-level. Finally, there are large disparities in access to both standard and innovative treatments between countries and regions.
In an attempt to overcome these challenges, EuroBloodNet and its associated registries have been able to take action to improve the quantity and quality of available data on sickle cell disease while continuing to safeguard patient rights. This has included activities such as supporting and training experts, mapping expertise and best practices, educating and empowering patients, and making registries interoperable. In order to ensure patients with sickle cell disease and other rare haematological disorders have access to quality care at all steps in their diagnostic and care journeys, the authors recommend that such activities be integrated into national health systems so as to better reach non-expert healthcare providers.
The 2023 Congress of the European Hematology Association (EHA) was held from June 8th-15th in Frankfurt, Germany. Within the framework of the event, the ERN-EuroBloodNet organised a meeting titled “The role of ERN-EuroBloodNet and ENROL Registry on advancing translational and clinical research in hematology.” Over the course of three hours, participants discussed three different topics: improving access to diagnosis and treatments; ENROL registry and endorsed initiatives; and AI-based models in haematology. In addition to the ideas presented by expert speakers, a number of outcomes were obtained from the audience’s active participation. To learn more about the specific topics discussed and the suggestions made, visit the link below.
From April 20th-22nd, the ERN ReCONNET held their first ever Scientific International Congress in Brussels, Belgium. The Congress provided network members with the opportunity to interact with various stakeholders in the rare and complex connective tissue and musculoskeletal diseases community, and to discuss innovative approaches while fostering collaborations across Europe. Through a number of interactive exercises, expert talks, and poster presentations, participants were able to expand their understanding of the field and move towards a better standard of care for European rare disease patients.
The ERN EURO-NMD has released a series of educational videos on rare peripheral neuropathies. They are primarily meant to raise awareness among general practitioners and other first line healthcare practitioners. They can also be used as patient and patient representative education tools. The six videos cover topics such as different types of neuropathies, common symptoms, and best practices, as well as features of some specific disorders.
The Orphanet orphan drug database has been updated to include information on appraisal and reimbursement in different countries around the world. The new “Appraisal/reimbursement” section of the drug pages, found under Additional information, now contains links to the French national health authority’s “Historique des avis” when available. This provides an overview of the assessments which have been conducted in France. For general information on processes in other countries, there is also a link to the Impact-HTA project’s Country Vignettes page.
Health Technology Assessment, or HTA, is the multidisciplinary process of evaluating new health technologies or interventions, to determine their value and involve policy, particularly with regards to pricing and reimbursement. It is a key part of transparent, evidence-based policy making in health.
As previously, information on specific drugs can be found by searching either by substance name, or by the name of the disease for which they are indicated. This update represents a total of 480 new pieces of data which have been added to the Orphanet database. The information will continue to be updated on an ongoing basis as the results of new evaluations are made available.
Orphanet Reports Series (ORS) are available in a new format on the following topics:
For these reports, Orphanet has opted for a different approach, moving away from a list-based presentation and instead focusing more on data analysis. These ORS now present a summary and schematic view of the data collected and analysed by Orphanet on the 2 topics.
The rare disease registries ORS provides analytic information on registries, cohorts, and databases. It includes data on their status, geographical coverage, relevant medical domains and the most represented rare diseases.
The medicinal products ORS describes, through quantitative and qualitative analysis, the key characteristics of medicinal products that have been granted a centralised marketing authorisation by the European Medicines Agency in rare diseases, with or without orphan designation.
Please find all available Orphanet Report Series by following this link. Note that Research Infrastructures useful to Rare Diseases has a new version from April 2023.
The 2023 version of the Orphanet Nomenclature Pack is now available online, released in the framework of the OD4RD2 poject. This year’s nomenclature pack is available in Czech, Dutch, English, French, German, Italian, Polish, Portuguese and Spanish.
This dataset compiles all the computable information necessary to implement ORPHAcodes in Health Information Systems alongside the main terminology in use. The Pack is intended to facilitate and improve the accuracy of coding of rare disease diagnoses, through the use of specific and time-stable identifiers: the ORPHAcodes. Using ORPHAcodes to code RD diagnosis alongside the other terminologies in use ensures that all RD diagnoses are visible in health systems. This will result in adequate healthcare for all RD patients, and will also facilitate health planning and healthcare performance assessment, particularly for ERNs. It will also facilitate data collection, research and analysis.
The Orphanet nomenclature pack includes:
A PDF containing an extensive description of the different files is available online, together with links to the available Recommendation for ORPHAcoding and to a helpdesk for support and advice on various aspects of ORPHAcoding.
Additionally, Orphanet has developed a variety of services and tools to help the community. These can be adapted to different settings, facilitate trans-coding, and include an ORPHAcode API to enable access to the nomenclature by web-based applications. One example is the Orphanet Data visualisation tool, a human-readable verison of the Nomenclature Pack data whichto eases the exploitation of the Orphanet nomenclature by end-users.