Much progress has been made in rare diseases over the last 20 years, but for the 300 million people living with rare diseases globally,[1] challenges persist. It takes on average five years for rare disease patients to get a diagnosis[2] and, once diagnosed, there are barriers to accessing treatment and health care services.[3] The international rare disease community is working hard to shape a better future for those living with rare diseases. In Europe, myriad initiatives across the ecosystem are working toward solutions, and there is a strong call for a coordinated approach. This manifests in the EURORDIS Rare 2030 Foresight Report,[4] which calls for an updated European Action Plan on Rare Diseases. Globally the community is also campaigning for the first-ever World Health Assembly Resolution on Rare Diseases.[5] These strides are critical, however, their impact will take time.
At UCB, we initiated Aspire4Rare as a way to guide concrete health system reforms through a framework and good practice examples that support goal-setting and impact measurement.
Designed with rare disease experts using the World Health Organization’s health system building blocks,[6] Aspire4Rare helps assess rare disease system preparedness across six areas: leadership and governance, innovation, health services, health information systems, health financing, and health workforce.
Vinciane Quoidbach, research project manager for public health and policy at the European Brain Council and one of the experts involved highlights that “Aspire4Rare addresses broad health care challenges with a focus on early diagnosis, which is crucial for timely interventions, reducing health care pressures, and improving patient outcomes. Rare diseases often go undiagnosed and misdiagnosed due to limited awareness among health care professionals. Aspire4Rare can create educational initiatives to raise clinician awareness of early signs of rare diseases. By innovating in diagnostic technologies like genomic sequencing, AI-powered decision support and biomarker development, Aspire4Rare can help reduce the diagnostic odyssey for patients with rare diseases.”
Dr Holm Graeßner, managing director of the Centre for Rare Diseases, coordinator of the European Reference Network for Rare Neurological Diseases and member of the expert group that developed Aspire4Rare, explains more about its remit. “It provides guidance and advice based on specialized knowledge and experience, guiding local action by being adaptable to national contexts and offering access to successful projects and their implementers.”
Aspire4Rare’s real achievement is reflected in its tangible application by the rare disease community, which paves the way for the success of ongoing and future initiatives.
Collaborating to improve national strategies
Creating a national strategy for rare diseases can be challenging, but so too is reforming a national strategy that hasn’t been updated in over a decade. Germany’s National Rare Disease Strategy, last revised in 2013, has been called out for being outdated, lacking coordinated care pathways[7] and insufficient psychosocial support,[8] with significant gaps in implementation.
Dr Graeßner chaired a multi-stakeholder expert group convened as part of the Aspire4Rare initiative to help recommend prioritised areas for improvement, including: updating the national action plan for rare diseases, improving diagnostics and ensuring access to coordinated, multidisciplinary care. Using Aspire4Rare, the group came together to “agree on a main policy ask: establishing a national rare disease institution with a political mandate to implement the national plan,” he explained.
Creating an adapted local framework
Health system reform is undeniably challenging, especially in larger countries with geographical disparities and decentralized policymaking. Balancing the needs of rural and urban areas, as well as regional and local priorities, adds to the complexity. This is a key challenge faced by Castilla-La Mancha in Spain, as highlighted by María Peña Díaz Jara, head of social and health care and resources in Castilla-La Mancha’s health department, and Jorge Mestre-Ferrandiz, independent health economics consultant and associate professor at Universidad Carlos III de Madrid, who are involved in setting up the regional strategy.
In Castilla-La Mancha, the dispersed population makes holistic care provision and coordination particularly difficult. Díaz Jara has been using the tools to focus on the main challenges she feels “we must address” and has found Aspire4Rare instrumental in concentrating their efforts on the priorities identified by multidisciplinary working groups, which play a crucial role in setting objectives and action plans. As part of this work, the current situation was assessed and the tools adapted to their needs, as Mestre-Ferrandiz explains. “We identified 30 initiatives, 39 opportunities and 29 barriers, leading to five key areas and three enablers for our strategy, following validation with local stakeholders and experts. Aspire4Rare was an essential tool to help us reach this point.”
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Reflecting on her involvement in the rare disease plan at the Belgian health ministry, Quoidbach emphasises the importance of defining clear objectives and evaluation criteria. “This remains crucial,” she explains, “even as the EU has made significant strides in data, research and new regulations to promote the development of new medicines.” With the upcoming EU Health Technology Assessment and the Biotech Initiative on the horizon, new EU policymakers must be thoroughly informed. “Aspire4Rare offers a powerful solution, providing detailed evidence and information to support their decisions. By leveraging Aspire4Rare, policymakers can ensure that their strategies are grounded in the latest research and best practices, ultimately improving outcomes for the rare disease community.”
Aspire4Rare is more than just a policy outline; it is a comprehensive roadmap for achieving meaningful progress in rare disease care. By focusing on practical steps and actionable strategies, it serves as a hands-on guide for shaping the future of healthcare policies and driving innovation in the field of rare diseases.
While it may take some time for regional and global rare disease action plans to be fully implemented, Aspire4Rare offers valuable tools that actively support and enhance these efforts in the meantime.
Get access to the Aspire4Rare global guidance framework for rare disease policy here.
[1] https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00056-1/fulltext
[2] https://www.eurordis.org/our-priorities/diagnosis/
[3] https://download2.eurordis.org/Access%20to%20treatment/access%20to%20treatment%20EN.pdf
[4] https://www.rare2030.eu/
[5] https://www.rarediseasesinternational.org/wha-resolution/
[6] https://www.who.int/publications/i/item/everybody-s-business—-strengthening-health-systems-to-improve-health-outcomes
[7] https://pmc.ncbi.nlm.nih.gov/articles/PMC10792297/
[8] https://www.hiqa.ie/sites/default/files/2024-02/Review-of%20national-rare-disease-strategies-in-selected-countries.pdf
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