Edition of 23 June 2023

Following the formal launch of the European Commission’s Comprehensive Approach to Mental Health, EURORDIS has released a statement reflecting on its implications for people living with rare diseases.

The new strategy was first announced during Commission President Ursula von der Leyen’s 2022 State of the Union address, and builds on existing policies to address the significant unmet mental health needs of Europeans. Acknowledging the complex nature of mental health challenges, it considers areas such as education, digitalisation, employment and climate, alongside health.

In a statement responding to the strategy, EURORDIS Mental Wellbeing Lead Matt Bolz-Johnson recognised the importance of this milestone, and praised in particular the strategy’s acknowledgement of the particular mental health challenges facing young people and people with disabilities. However, he also criticised the lack of explicit recognition for Europeans with physical health conditions, such as rare diseases, despite prior evidence that they are more likely to experience mental illnesses such as depression:

“As the Commission follows up on this initiative, they should acknowledge the mental health challenges faced by all people living in vulnerable situations. Doing so would appropriately align the initiative with progress being made globally in recognising the mental health vulnerabilities of individuals living with rare diseases or other physical health conditions.”

While the new mental health strategy is clearly an important step towards improving the mental health of all Europeans, there is a need for better inclusion of people with rare diseases, along with all other existing physical health conditions, in order to avoid exacerbating existing disparities and ensuring that the rare disease community does not get left behind.

Following a meeting on 28 February 2023, the Wilson’s Disease Policy Network has published an action statement calling on stakeholders to work together to improve care for people living with Wilson’s disease. Wilson’s disease is progressive, and early diagnosis and treatment are key for reducing mortality. With this in mind, the patient advocates, healthcare professionals and policymakers in attendance at the meeting identified five specific policy priorities for supporting patients, which are elaborated on in the statement.

First, European institutions should improve data collection, by strengthening support for population-based rare disease registries. One way this could be accomplished is by using the Orphanet nomenclature to create a uniform methodology for national registries. Additionally, there is a need to address inequalities in access to quality, multidisciplinary care, which arise due to an uneven geographic distribution of centres of expertise. The Network also highlights the importance of raising awareness of Wilson’s disease among healthcare professionals in order to improve timeliness of diagnosis.

The fourth priority discussed in the statement is the importance of collaboration to address treatment non-adherence, which is common among people with Wilson’s disease despite the associated risks. Finally, a call is made for eliminating cost as a barrier to accessing treatment.

More detail about each of the above priorities can be found in the statement. By working towards their implementation, European institutions and other stakeholders can ensure that people living with Wilson’s disease have barrier-free access to the best care possible.

Norway’s National Advisory Unit on Rare Disorders has recently expanded their website to include nearly 1,200 different rare diagnoses. The website, Sjelden.no (sjelden means “rare” in Norwegian), is an open access knowledge portal working towards the effective dissemination of rare disease knowledge. It provides healthcare workers and others who work with the rare disease community a platform where they can access quality-assured knowledge about rare diagnoses which are known in Norway, and which currently have some sort of service available at the centres of expertise under the National Advisory Unit on Rare Disorders. In addition to expanding the number of diagnoses included from 145 to almost 1,200, ORPHAcodes and links to Orphanet disease pages have also been added to the site. This will help users access additional information outside the specific Norwegian context, and will further enhance the accessibility of knowledge for Norway’s rare disease community.

In May, the EMA's CHMP delivered one positive opinion on market authorisation to the following medicinal product with an orphan designation:

• Tibsovo, in combination with azacytidine, for the treatment of adult patients with newly diagnosed acute myeloid leukaemia (AML) with an isocitrate dehydrogenase-1 (IDH1) R132 mutation who are not eligible to receive standard induction chemotherapy. Tibsovo monotherapy is indicated for the treatment of adult patients with locally advanced or metastatic cholangiocarcinoma with an IDH1 R132 mutation who were previously treated by at least one prior line of systemic therapy.

In May, the FDA accorded market authorisation to the following medicinal products with an orphan designation:

• Ayvakit, for treatment of adult patients with indolent systemic mastocytosis (ISM). Ayvakit is not recommended for the treatment of patients with ISM with platelet counts of less than 50 X 109/L
• Vyjuvek, for treatment of wounds in patients 6 months of age and older with dystrophic epidermolysis bullosa (DEB) with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene
• Kalydeco, for treatment of cystic fibrosis (CF) in patients age 1 month and older who have at least one mutation in the CFTR gene that is responsive to ivacaftor potentiation based on clinical and/or in vitro assay data
• Lumryz, for treatment of cataplexy or excessive daytime sleepiness (EDS) in adults with narcolepsy