On February 28, hundreds of events were organized worldwide to celebrate Rare Disease Day, which takes place each year on the last day of February. The main objective of this campaign is to raise awareness among private and public stakeholders about rare diseases and their impact on patients’ lives, with the goal of increase their efforts to treat and cure health conditions affecting small populations. As they are frequently a result of one or more genetic mutations, rare diseases represent a valid model for clinical trials, and pharmaceutical companies may benefit from focusing on these from a scientific, regulatory, and commercial perspective.

By definition, a disease is considered rare in Europe when it affects less than 1 in 2,000 people, while in the US it is rare if its prevalence is less than in 200,000 Americans at any given time. These diseases affect people of all ages.

Besides being beneficial from a scientific standpoint, developing drugs for a rare disease could be commercially beneficial for pharmaceutical companies, as the FDA would assign an Orphan Drug designation granting a seven-year market exclusivity to these products due to the fact that finding novel gene therapies may ultimately be beneficial for curing many common health conditions. Ultimately, a high price for a new drug may be easily justified by the added value that the product could bring to a disease market with a relatively small and predictably sized patient population.

One example is seen in retinitis pigmentosa, a family of inherited rare diseases (one case for every 2,500–7,000 people) causing retinal degeneration that ultimately causes severe visual impairment leading to total blindness. Currently, no drug is approved to stop the disease progression. Ongoing research is being performed by universities and mid-sized biotech companies, all of which hold multiple potential treatments. However, these institutions often have limited capacities, and GlobalData expects effective treatments to become available for this disease soon only if other mid-sized and large pharmaceutical companies will contribute with effective collaborations.

This kind of commitment was seen recently in the US with Biogen’s marketing of Spinraza (nusinersen), the first and only treatment for children and adults with spinal muscular atrophy, a leading genetic cause of death in infants and toddlers.

Retinitis pigmentosa, spinal muscular atrophy, and hundreds of other rare diseases represent a unique opportunity for healthcare firms to improve thousands of patients’ lives and achieve a high economic return by combining streamlined development programs with sophisticated pricing strategies.