Ireland launches rare diseases public consultation to develop new strategy [Advocacy Lab Content]

Stephen Donnelly, Ireland’s minister for health, has launched a public consultation to inform the development of a new National Rare Disease Strategy. The results of the consultation will be considered by a steering group tasked with developing the strategy.

To address current needs – it’s estimated that around 300,000 people in Ireland are living with a rare disease – the new National Rare Disease Strategy will set out a vision for rare disease services in Ireland.

The government also revealed a Patient Forum has been established to ensure that the voices and lived experiences of patients, carers and their loved ones remain central to the formation of the new strategy.

The public will have an opportunity to help shape its development through the public consultation.

Minister Donnelly invited people to engage with the consultation “to ensure that we deliver a strategy that responds to the needs of people living with rare diseases and prioritises improvements that will have the biggest impact on resources and services.”

Following the launch of the consultation, Rare Diseases Ireland (RDI) unveiled its new manifesto, setting out their policy expectations, and “calling for people living with rare diseases to be a priority group for the next Government. RDI said, “Strong political leadership is required to set clear expectations, ensure that all parts of the system work together, and provide the resources needed to deliver change.”

Ireland coordinating with EU

On 23 July, EURORDIS-Rare Diseases Europe – an RDI partner – submitted an Open Letter to Stella Kyriakides, European Commissioner for Health and Food Safety, outlining policy recommendations for the EU’s rare disease strategies for the next five years.

The letter, a direct outcome of the 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), received support from over 2,000 signatories, including patient organisations, academia and the All-Ireland Rare Diseases Interdisciplinary Research Network.

It emphasised the unified call from Europe’s rare disease community for detailed policy actions from the European Commission and the successor of Kyriakides at DG SANTE. Kyriakides successor will be confirmed by the European Parliament in the autumn.

In June, the European Parliament published ‘Tackling Rare Diseases – Challenges, opportunities and gaps for action on rare diseases in the European Union’ an in-depth study, requested by the EP’s SANT committee.

The report opens with a bleak assessment: “The development of suitable treatments is marked by market failure and requires stimulation. However, difficulties in clinical development and evidence generation, establishing the efficacy and effectiveness of treatments remain problematic even if research and development (R&D) is incentivised.”

6000 distinct rare diseases

In the European Union (EU) the importance of international collaboration in progressing research on rare diseases has long been recognised, with rare diseases defined as those affecting no more than 1 in 2000 people.

With over 6000 distinct rare diseases impacting up to 36 million EU citizens, the EU launched the first “ERA-Net E-Rare”, a coordination of agencies jointly funding rare diseases research, under the 6th EU Research and Innovation Framework Programme (FP6).

Ireland benefits directly from collaborations allowing researchers, clinicians, companies (including SMEs), and patient organisations to pool resources, data, and complementary expertise, achieving what no individual country could accomplish alone.

From 2007 to 2020, the EU allocated more than €3.2 billion under the 7th Framework Programme (FP7) and Horizon 2020 to over 550 projects on multinational research consortia in the area of rare diseases. These projects span across all medical areas, including neurological, immunological, metabolic diseases, and rare cancers.

These projects contribute to understanding the causes and characteristics of rare diseases, developing new diagnostics and therapies for patients, and promoting best practices for use in hospitals and healthcare systems.

Acting Chief Medical Officer, Dr Colette Bonner explained how: “The first National Rare Disease Plan enabled Ireland’s participation in 18 European Reference Networks for Rare Disease, facilitating collaboration among healthcare providers on conditions that require highly specialised treatment, knowledge and resources.”

She added: “The updated strategy will continue to support this work, as well as supporting innovations in diagnostics, genetics and treatments.”

Diverse range of stakeholders

In line with the EU’s collaborative approach, Chair of the Rare Disease Steering Group, Professor Cecily Kelleher said: “The importance of public engagement in our processes cannot be overstated. Seeking input from the diverse range of stakeholders, including but not limited to the rare disease community, advocacy groups, and healthcare providers, allows us to develop a strategy that will be achievable, effective, sustainable, and responsive to the real experiences and needs of people living with a rare disease.”

[By Brian Maguire | Euractiv’s Advocacy Lab ]

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