RareConnect, a platform helping individuals find others living with the same rare disease so they can share resources and receive support, has now created a new online community for ROHHAD Syndrome. The platform includes group discussions divided by specific diseases, included ROHHAD Syndrome, in addition to a group for undiagnosed diseases, a general discussion, and a technical discussion for feedback on the website.
RVA has launched a guide for rare disease organisation leaders entitled Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia (the Guide). The Guide is for both established rare disease organisations and those who are interested in setting up an organisation. This initiative follows up the acknowledgment of the role rare disease organisations can play in the rare disease sector included in the National Strategic Action Plan for Rare Diseases (the Action Plan). This initiative aims at providing additional resources to the strengthen the rare disease community.
The European Commission has published the EU4Health Work Programme for 2022, detailing priorities and actions, including resource allocation, for the implementation of EU’s health measures in 2022 under the EU4Health Programme. The 2022 work programme includes direct grants to the 24 ERNs until 2023, before the launch of multiannual grants. The direct grants aim to support the ERN’s actions and activities in the field of rare diseases, notably its contribution to the expansion of rare disease knowledge among health professionals and patients. The grants will fund the operational activities of the ERNs such as the integration of new members, as well as their training activities and the generation of knowledge and best practice on rare disease diagnosis and healthcare delivery. The Commission is also financing an open call for proposals for operation grants to NGOs working in the field of rare diseases in order to enhance knowledge on rare diseases and improve access to diagnosis and treatment.
Under the 2022 EU4Health Work Programme, the Commission will also provide direct grants to Member States for the integration of the ERNs into their national healthcare systems. Activities will include exchanges of best practice and concrete proposals and guidelines for better integration of ERNs in the national healthcare systems, including well-defined patient pathways, referral procedures and the development of national networks on rare diseases. Finally, the EC will provide a direct grant to Orphanet for the establishment of a harmonised coding system for rare diseases. The aim of this grant is to finance the integration of Orphanet nomenclature and ORPHAcodes as the main codification system for rare diseases in the IT systems of the ERNs and healthcare providers, and the continuous maintenance, update and improvement of the system based on scientific analysis of the state-of-the-art knowledge in the area of rare diseases.
On 22 June 2022, the European Commission has held a conference on the new Regulation on Health Technology Assessment (HTA) with the aim to present its plans for the implementation of this new legal framework. The conference also aimed to address the opportunities and challenges of the coming years until the application of the Regulation on HTA in January 2025. The new Regulation aims to provide faster access to treatment for EU Patients as well a more equitable access to diagnosis and treatment across Member States. The Regulation also aims to improvegood practice exchanges between Member States on HTA, in order to save time and resources in the development of treatments. Under this new framework, clinical assessments will be carried out by two of the Member States for all the countries as opposed to the current model where each of the 27 Member States carries out its own clinical assessment. A coordination group, made of representatives of Members States has also been established. During the conference, EURORDIS stressed the importance of patients’ engagement, in order for them to provide their input in every step of the HTA.
The next steps include the release of the IT platform for the new Regulation during the fourth quarter of 2022, as well as the establishment of a methodology subgroup and the setup of a Stakeholder Network. The adoption of the implementing acts is planned for the fourth quarter of 2023, while the procedural guidelines will be finalised by the fourth quarter of 2024, before the implementation of the Regulation January 2025.
A new study has been published in the European Journal of Medical Genetics on the access to social services for undiagnosed rare disease patients in France. The aim of the study is to assess the link between diagnosis and access to services, and to identify potential barriers faced by patients. The study reveals that access to social benefits differs for families with undiagnosed children compared to the diagnosed population, notably in the amounts and periods of support granted. This study highlights the barriers faced by undiagnosed rare disease patients in access social assistance, raising a particular equity concern as a high number of rare disease patients remain undiagnosed.
A new study has been published in the Orphanet Journal of Rare Diseases on the level of knowledge and awareness on rare diseases among emergency physicians in China. The study reveals the existing educational needs regarding rare diseases for emergency physicians in the country, as 98.5% of questionnaire respondents rated their knowledge about rare diseases as minimal or insufficient. These results are particularly concerning as the majority of rare disease patients face significant delays in diagnosis, and thus to appropriate treatment. The study identifies practice guidelines and professional websites as potential tools to improve the level of knowledge on rare diseases. The study also recommends to add courses on rare diseases into the medical education of emergency physicians in China.
A new study has been published in The European Journal of Human Genetics on the health-related quality of life and the illness perceptions and experiences of children with TANGO2 disorder and their parents. The study was conducted among families from the US, Canada, France, Germany, the Netherlands and Saudi Arabia. The study shows that the health-related quality of life in children with TANGO2 disorder is lower than for healthy children. The study also highlights that adaptation to the diagnosis results in higher quality of life scores, as teenagers show better results than diagnosed children. The study also reveals that illness perceptions in parents are correlated with negative emotions, including disease burden and heavy psychological consequences. The study thus highlights the need for sociological support for children diagnosed with TANGO2 disorder and their families in order to avoid isolation and psychological challenges
A new study has been published in the Orphanet Journal of Rare Diseases on the patient involvement in rare diseases research in Norway. The study provides a review of the literature and Norwegian researchers’ experiences on the matter. Through these methods, the study shows the importance of integrating patients in order to improve research quality and engage public opinion and involvement. The study highlights the positive correlation between patient engagement in research and the quality of the process and the outcomes of the research, notably in terms of relevance for the rare disease community and for improvements in diagnosis and treatments. The study shows the importance of early involvement of the patients, which improves the study design and research protocol.
As part of the Real-World Evidence Leaning Network, RWE4Decisions, a multi-stakeholder initiative commissioned by the Belgian National Institute of Health and Disability Insurance (INAMI-RIZIV) and comprising policy makers, HTA bodies, payers, regulatory agencies, clinicians, patient groups, researchers, industry and academic experts, has gathered responses to a questionnaire about national data sources that could be used for HTA/Payer decision-making. The responses act as a snapshot of countries’ health data spaces. Responses from Austria, Belgium, Denmark, England, Finland, Norway, Scotland, Spain and Sweden were gathered answering questions ranging from patient id and data linkage to data quality standards.