Alexion AstraZeneca Rare Disease

Accelerating innovation in rare diseases

Millions of people living with rare diseases are urgently waiting for diagnosis, care, and life-changing treatment options. Alexion’s Soraya Bekkali considers how to get new solutions to them faster.

Rare diseases are a global health concern. They affect an estimated 400 million people worldwide and are often severe, progressive, and life-limiting. For patients living with rare diseases, getting a diagnosis – then accessing treatment if it even exists – is a challenging journey, which, on average, takes over five years. And, despite significant R&D progress in some areas, there are still no meaningful treatment options for 90% of the estimated 10,000 rare diseases.

People living with rare diseases desperately need innovation in diagnosis, treatment, and care – and they need it fast. So, how can innovation in rare diseases be accelerated?

Expertise and innovation: Tackling the challenges of rare disease R&D

The complex biological nature of rare diseases and their infrequency in the general population pose a myriad of obstacles to R&D that can slow – or even stall – innovation.

Identifying patients and defining unmet needs are complicated by small, heterogeneous populations, poor underlying disease awareness, limited diagnostic capability, and gaps in knowledge about the natural history and progression of the disease.

Designing and populating trials is more difficult because of the characteristics of the patients involved (e.g. paediatric patients) and the fact that small, geographically dispersed patient populations often require multicentre, multinational trials. Participation can be restricted by rigid inclusion and exclusion criteria and, for many rare diseases, established endpoints or defined clinical measures are frequently unvalidated or simply don’t exist.

Generating evidence to demonstrate the value of innovative therapies is particularly complex because orphan drugs often don’t fit into traditional value assessments due to the nature of evidence that is possible and ethical to produce.

New technologies and partnerships: Advancing our understanding of rare diseases

Developing a deep understanding of rare diseases and combining this with the agility to innovate and adopt new R&D approaches is essential to drive innovation forward. Around 80% of rare diseases have a genetic origin, and gene and cell therapies are rapidly emerging as a promising new route for delivering the breakthroughs patients so urgently need.

In addition to a pipeline of investigational assets across multiple disease areas, over the last year, Alexion has acquired a portfolio of preclinical rare disease gene therapies, which show considerable promise, and has collaborated with Cellectis to accelerate our cell therapy and genomic medicine ambitions. Our goal is to develop new therapies with improved safety and efficacy profiles and to expedite these innovations into the clinic.

We are also harnessing artificial intelligence (AI) and machine learning to increase rare disease understanding. These powerful tools can potentially help us shorten the time to diagnosis and identify and validate potential therapeutic targets more efficiently. Partnering with Verge Genomics, we are able to leverage their AI-enabled ConVERGE platform, which applies machine learning to human tissue data to identify novel disease targets that may have a higher chance of success.

The future of medicine development can also be accelerated with digital solutions. Alexion, combined with AstraZeneca, has the opportunity through our health tech business, Evinova, to implement digital health technology in clinical trials that may improve the patient experience and drive healthcare transformation with accelerated timelines and reduced costs.

These new technologies are creating exciting research opportunities and cementing a new era of collaboration as rare disease experts, medical pioneers, patients, and other members of the rare disease community partner to accelerate scientific progress. We have great optimism about the potential to deliver real change for patients in the coming years, but it is equally important to ensure that drug discovery is coupled with an empathetic and inclusive understanding of patients and their experiences.

New perspectives: Patient-centricity fuels R&D progress

Being deeply connected to patients enables us to lead the way in innovating clinical trial design. Alexion was the first company to adapt the patient friction coefficient to rare diseases, evaluating the burden of clinical trial participation on patients and caregivers, informing protocol changes, mitigation plans and enhancing support services. In addition, our Solutions To Accelerate Results for Patients (STAR) process gathers insights from patients and other stakeholders along the disease journey, enabling us to design clinical programmes and development strategies that are centred around patient needs.

No matter how small the patient community, we need to listen to as many voices as we can. We must focus on enhancing equity and do everything in our power to ensure that all patients are able to benefit from medical progress. But, drug discovery will ultimately be meaningless if the value of innovation is not appropriately recognised and realised for patients. A regulatory environment that encourages continued innovation and investment in research will be crucial to achieving long-term positive change.

New policy approaches: Shaping the innovation landscape

In terms of policy, this is a critical moment for rare disease innovation in the EU. Alongside the European health data space, which has the potential to have far-reaching effects on how data – including genomic data – can be used to accelerate R&D, and a potential EU ‘action plan’ on rare diseases, the European Commission is also updating the EU’s orphan medicinal products (OMP) regulation. The OMP has been a catalyst for innovation in rare diseases, providing important incentives to drug manufacturers to undertake ‘high-risk’ research for small patient populations where considerable need exists.

Concerns have been raised that the proposed updates to the OMP could impact the clinical and economic viability of researching and developing rare disease treatments. By reducing incentives offered to drug manufacturers, including shortening data and market exclusivity periods, there is a risk that the OMP could fall short of achieving the Commission’s aims – and may even hinder progress.

It is essential that rare disease policies continue to support earlier, faster, and more accurate diagnoses, promoting the use of novel technologies to accelerate innovation within a framework that enhances equitable access across countries, regions, and hospitals.

Partnership across the rare disease ecosystem remains essential for progress

Now is the time for us to speak up and champion approaches that will help address unmet needs in rare diseases. We must be innovative, not just in discovering new treatments, but in how we work together and navigate the complex rare disease ecosystem. We must ask ourselves, What can we do to move innovation forward? And, How can we accelerate progress? Because for many patients living with rare diseases, tomorrow is too long to wait.

About the author

Soraya Bekkali

Soraya Bekkali, MD, is senior vice president, EUCAN & international business at Alexion, a global biopharmaceutical company focused on developing life-changing therapies for people living with rare diseases.

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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