Rare disease therapeutics is an area that has been ripe for innovation for some time. Currently, 7,000 rare diseases are known, and an estimated 250 to 280 more are identified each year. Worldwide, a total of 400 million people’s lives are touched in some way by rare disease. Meanwhile, patients, their families and caregivers anxiously await advances in treating these serious and often life-threatening illnesses, making it critical to accelerate rare and orphan product development. The COVID-19 global pandemic has added another layer of challenge, rendering innovative, adaptive approach to these studies crucial.
The good news is that scientific progress and technology advances, combined with regulatory and financial incentives, have led to the burgeoning of rare disease drug development. And with recent successes in cell and gene therapy, for the first time in decades there is potential for a cure for many of the rare diseases that involve a single gene mutation.