Rare diseases: the urgent need for health equity and accelerated access

Rare diseases are complex, but the need is urgent. Alexion’s Eunice Alvazzi discusses the shared responsibility in achieving access to innovation in rare diseases

An estimated 400 million people globally are affected by rare diseases. While each condition individually may be rare, in Europe alone, there are approximately 36 million people living with a rare disease. Rare diseases are often severe, progressive and life-threatening, and the path to diagnosis can be lengthy and convoluted. The limited medical and scientific knowledge about individual rare diseases and limited access to specialist care pose unique challenges to healthcare professionals and health systems, creating considerable health inequity for rare disease patients.

Once a diagnosis has been ascertained, people living with a rare disease continue to face barriers to care; of the estimated 10,000 rare diseases, more than 90% currently have no meaningful treatment options. Even when an appropriate treatment exists, access isn’t guaranteed. There are significant disparities between EU countries in how quickly patients can access innovative orphan medicines, and across the globe, people living with rare diseases face challenges navigating access in countries where there is no rare disease infrastructure and access has not previously existed for rare disease medicines.

One way to begin to address these disparities is to ensure that there is strong data and evidence demonstrating the clinical and economic value of the medicine for rare disease patients and the health care system.

Traditional value assessments fuel health inequity

National healthcare systems and value assessment processes for rare diseases need to evolve to address the disparities – and, therefore, inequities – in how quickly patients can access innovative rare disease medicines.

To overcome access challenges, the complexities of rare diseases must be taken into consideration. For example, while the UK Rare Disease Framework established in 2021 emphasises the importance of enhancing access for patients with rare diseases, progress in patient access has been limited due to a lack of updates to the value assessment framework for rare diseases medicines.

One of the factors driving inequity is that traditional value assessments do not comprehensively capture the full impact on the quality of life for people living with complex rare conditions and their carers. An openness to embracing novel approaches and actively involving patients is required to accelerate access to rare disease medicines.

Developing compelling evidence on the burden of rare disease

Rare diseases impose a high social and economic burden for patients and their families, health care systems and society overall, yet demonstrating this can be difficult and there is a scarcity of cost of illness (COI) studies. The main issue to address in the COI analysis of rare diseases is the lack of primary and/or aggregated data, making it challenging to estimate the economic burden.

For example, evidence may be limited to only the patient and fail to account for the broader impact on the quality of life of parents caring for a gravely ill or disabled child throughout their life – or adequately represent the financial burden of rare diseases on families and wider society.

Markers of disease progression may also be unidentified or unmapped, making arguments for time-critical intervention difficult to evidence.

Many agencies responsible for assessing the quality and efficacy of medical treatments are now actively seeking inclusion of patient-reported outcomes data in health technology assessment (HTA) submissions, including burden of disease data that could better inform decision-making by presenting a more complete picture of the impact of a rare disease. Thus, it is especially important for industry and clinical trial investigators to actively seek out and respond to patient feedback on meaningful outcomes and incorporate novel clinical trial endpoints that can be used to develop cost-effectiveness arguments.

Increasing patient participation in evidence development

With rare diseases being inherently unique and not well understood, conducting clinical research in these areas is often complex, particularly with small patient population sizes. Establishing meaningful clinical endpoints also may be problematic due to the nature of evidence that it is possible and ethical to produce.

Successful approaches often involve working closely with regulatory decision makers at an early stage to define and establish novel outcome measures that patients have identified as uniquely meaningful to them. Collecting real-world evidence from registries can also provide new and complementary information for regulatory submissions, as well as generating the long-term data required as part of post-marketing surveillance.

Additionally, new digital technologies are increasingly being employed to generate compelling outcome data and include the patient voice. For example, Alexion was one of the first companies to use video evidence of patients in regulatory submissions to demonstrate the impact of an outcome measure for a rare metabolic disease – an approach that is now considered standard practice.

Partnering to improve access to medicines

Given the acknowledged challenges in accelerating access to innovation in rare disease, as a global rare disease community, we must together champion equitable access for all. It is incumbent on all stakeholders working in this complex area to proactively identify and work to remove access barriers at local and regional levels and to build the capabilities of healthcare systems across the world to best serve the significant unmet needs of people living with rare diseases.

Achieving access to medicines is at one end of the journey – but creating a favourable environment for innovation to flourish is the essential starting point. The European Orphan Medicinal Products (OMP) regulation was introduced to address the lack of R&D and subsequent lack of treatments for rare diseases. After two decades, it is appropriate to review the framework, but the proposed update of the OMP regulation could unravel the innovation incentives that the original regulation helped create. The rare disease community needs policies that encourage steps forward, not back.

The best possible chance of improving access to innovation for rare disease patients is through partnership. As an industry, we must continue to invest in innovations and forge new collaborations to improve accessibility to treatments and solve affordability challenges together with payers. We must proactively engage in dialogue with access decision makers, sharing our perspectives, identifying the challenges and then problem solving and forging unified commitments together. People living with a rare disease deserve health equity – and it is our shared responsibility to make this happen today and for future generations.

About the author

Eunice Alvazzi

Eunice Alvazzi is the global head of haematology, nephrology, and neurology value and pricing at Alexion, AstraZeneca Rare Disease, a global biopharmaceutical company focused on developing life-changing therapies for people living with rare diseases. She is passionate about advancing patient access for rare disease patients.

About Alexion

Alexion AstraZeneca Rare Disease


Alexion, AstraZeneca Rare Disease, is the group within AstraZeneca focused on rare diseases, created following the 2021 acquisition of Alexion Pharmaceuticals, Inc. As a leader in rare diseases for more than 30 years, Alexion is focused on serving patients and families affected by rare diseases and devastating conditions through the discovery, development, and commercialisation of life-changing medicines.

Alexion focuses its research efforts on novel molecules and targets in the complement cascade and its development efforts on haematology, nephrology, neurology, metabolic disorders, cardiology, and ophthalmology. Headquartered in Boston, Massachusetts, Alexion has offices around the globe and serves patients in more than 50 countries. For more information, please visit

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