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Edition of 31 January 2022

International News

United States: Launch of the Rare Disease Clinical Outcome Assessment Consortium

C-Path has launched the Rare Disease Clinical Outcome Assessment (COA) Consortium, a public-private partnership focusing on selecting clinical outcome assessment parameters for therapeutics and products targeting rare diseases. The Rare Disease COA Consortium was created in partnership with the FDA, NORD, and other government agencies, as well as organisations in the biopharma, clinical research and patient communities. The aim of the COA Consortium is to reduce time and costs associated with the development of new COAs in order to help boost treatment for rare diseases.

Australia: 2021 Rare Cancers, Rare Diseases and Unmet Need grant recipients

The Australian Government has announced 27 grant recipients under the 2021 Rare Cancers, Rare Diseases and Unmet Need (RCRDUN) grant opportunity for a total amount of $63.4 million. This grant opportunity aims to support research and clinical trial projects in Australia dedicated to rare cancers and rare diseases, and to encourage innovative trial methodologies.

European News

2022 EU4Health Work Programme adopted

The Commission has adopted the second EU4Health Work Programme, setting out priorities and actions, including the resource allocation, for the implementation of the EU4Health Programme in 2022. Under this work programme, the 24 European Reference Networks will receive new direct grants for their operations until 2023, before the launch of multiannual grants. Member States will also receive direct grants to support the integration of the ERNs into national healthcare systems and the development of national rare disease plans. Orphanet will also receive a direct grant in order to support the establishment of a harmonised coding system for rare diseases, notably by integrating the Orphanet nomenclature and ORPHAcodes as the main codification system for rare diseases in the IT systems of the ERNs and healthcare providers. Finally, eligible NGOs working in the field of rare diseases will receive operating grants under this programme, when linked to a specified time-frame and specific outputs.

EU Member States’ legislation on off-label prescription of medicines

A new study has been published in the Rare Disease and Orphan Drugs Journal on EU Member States’ legislation regarding off-label prescription of medicines. The study reveals that the national regulation for off-label prescription is heterogeneous in the different Member States which have responded to the questionnaire, including Bulgaria, Czech Republic, Estonia, Finland, Germany, Ireland, The Netherlands, Romania, Slovenia and Sweden. Moreover, when assessing the national legislation in relation with the principles of the Declaration on Good Off-Label Use in Practice (GOLUP) signed by European associations on common standards of patient care, it appears that only one Member State has integrated all the principles contained in the document into its legislation. The study thus highlights that before developing a regulatory framework on off-label prescription at the EU-level, there is a need to provide a clear definition and develop a common understating of the concept so that Member States can achieve a more harmonised approach.

Luxembourg: Orientation Guide for people living with a rare disease

Luxembourg has developed a new guide intended for rare disease patients and their families to provide information on existing resources related to care services. The guide provides an inventory of services and support, including social and financial assistance available for people with a rare disease. The content of this guide was designed by the Working Group D2 as part of the National Plan for Rare Diseases 2018-2022 and aims at simplifying access to administrative procedures and improving access to information on administrative rights for people with rare diseases.

Orphan Drugs

Postmarketing safety of orphan drugs in the United States

A new study has been published in the Orphanet Journal of Rare Diseases on postmarketing safety of orphan drugs in the United States. The study aims to evaluate the labelling changes of orphan drugs and to identify postmarketing safety-associated approval factors by studying the FDA database on orphan drugs. The study includes all FDA-approved orphan drugs since 1998 and reveals that 69.2% had labelling changes related to postmarketing safety since designation and approval. This finding shows that timely regulatory action has been in place for orphan drugs with frequent safety-related labelling updates to inform prescription practice, especially for drugs approved for long-term use. The study also reveals that labelling changes related to severe safety events are uncommon and focus mainly on the reinforcement of initial boxed warning.

Ethical Legal and Social

Legislation on informing relatives of their genetic risk in Belgium

A new study has been published in the European Journal of Human Genetics on the Belgian legislation regarding family communication of genetic information and genetic risk. The study reveals that when coupled with international precedent and laws, the current Belgian legislation provides sufficient justification to establish a duty to inform relatives of their genetic risk. However, the study highlights that this duty must be balanced with the duty to respect patient confidentiality. The study concludes that in cases where genetic risk information could have a significant impact on relatives’ health and reproductive decision making, an exception may be warranted to the legal duty of professional secrecy.

Quality of life

The ecosystem of patients with lysosomal storage diseases in Spain

A new study has been published in the Orphanet Journal of Rare Diseases on the ecosystem of patients with lysosomal storage diseases in Spain. The study aims at analysing the patient journey, from diagnosis to follow up, as well as assessing the unmet needs perceived by patients. The study shows that patients perceived an important impact of the diseases on their daily routines, including in their work environment and social life. The study also reveals that the main unmet need reported by patients and healthcare professionals is accelerating diagnosis, which could be achieved by enhancing medical education of clinicians.

Data management

TEHDaS policy forum discusses services expected from European Health Data Space

During the second TEHDaS policy forum in November, representatives of ministries from 16 European countries discussed the services they would like to see emerging from the future European Health Data Space. They emphasised the need to clarify the interpretation of data protection rules, build a robust infrastructure and improve national health data governance to enable the better use of health data. In 2022, the TEHDaS team will visit 12 European countries with the aim of collecting an overview of the state-of-play of the national health data management developments in relation to the EHDS. The next policy forum will be held in June 2022.

TEHDaS creates foundation for French-Finnish health data collaboration

TEHDaS has announced the creation of a foundation for French-Finnish data collaboration, which includes two national centralised health data platforms, the French Health Data Hub and Finnish Findata. The two-year agreement between the platforms aims at facilitating the effective and safe secondary use of health data and to promote practical know-how and best practices. This collaboration also aims at contributing to the construction of the future European Health Data Space as set in the EU Commission priorities for 2019-2025 in order to promote better exchange and access to different types of health data for healthcare delivery as well as for health research and health policy making purposes.

Launch of the Healthy Data e-consultation

As part of TEHDaS and the future European Health Data Space, the iCitizen team and the AHEAD project team have launched the Healthy Data e-consultation in order to suggest recommendations on the role of the citizens in the future European Health Data Space. EU citizens can now participate to the consultation and give their views on health data secondary use and sharing and on the role that they would like to play in the management and use of their related health data.

Summary of the edition of 31 January 2022

Editorial
Political news
Scientific news
And also...