For those of us striving to develop new treatments for rare diseases, the urgent and unmet needs of patients are always at the forefront of our minds.

More than 400 million people are living with rare diseases worldwide, while no meaningful treatments are available for over 90% of the approximately 7,000 known rare diseases.

As well as a lack of effective treatments, too many patients face a long and difficult journey to diagnosis followed by challenges in navigating health systems to access the care they need.

Rare disease patients are urgently waiting for change. This is what drives the ambition we have set ourselves at Alexion: to serve more patients with rare diseases worldwide by accelerating scientific innovation and expanding our geographic reach.

We continue to deepen our understanding of rare diseases and have an industry-leading pipeline with over 20 development programmes underway. The knowledge we’ve acquired over 30 years of pioneering scientific innovation underpins our efforts to find new solutions for patients today.

However, achieving scientific progress in rare diseases is challenging due to small patient numbers combined with a lack of information.

Sources of information that are available for more common conditions – assays, endpoints, patient registries, regulatory precedent – often don’t exist for rare diseases and we have to navigate these gaps.

To deliver medicines that truly meet the needs of patients and their families, we must take a collaborative, patient-centric approach, focusing on understanding patients, not just diseases.

That’s why it’s so critical that we listen, learn and incorporate insights from ‘bench to patient’, combining our scientific expertise in rare diseases with an in-depth appreciation of the challenges that patients are facing.

Scientific exploration alone will not be enough to deliver on the full promise of improving patients’ lives. We must work with the rare disease community to help improve access to diagnostic tools and create more equitable and sustainable healthcare ecosystems.

Access to medicines is a shared responsibility and we can only do so much without the support of local policymakers, advocacy groups, physicians and other key stakeholders.

One area that requires urgent attention in rare diseases is the modernisation of regulatory frameworks to keep pace with rapid advances in science and technology.

Great achievements have resulted from patient-centric policies such as the Orphan Medicinal Products (OMP) Regulation – the catalyst for the authorisation of more than 200 orphan medicines in Europe since 2000 – and it is essential that reforms to public health policies continue to encourage investment in R&D and appropriately incentivise scientific discovery. The policy decisions being made today could shape progress in patient care for decades to come, so the time to act is now.

To significantly improve outcomes in rare diseases, collaboration and innovation need to go hand in hand.

Real change can only happen when patients and their advocates, healthcare professionals, access and policy decision-makers and innovators work together for the patients who are urgently waiting for treatments.

Only then can we truly realise our ambitions for those living with rare diseases today and for future generations.

Soraya Bekkali, MD, is Senior Vice President, Commercial International at Alexion Pharmaceuticals, Inc. Go to alexion.com