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.

• Read the full article in pharmaphorum's Deep Dive digital magazine