Ferrer
Drug Development for Rare Diseases
Fabiana d’Aniello
Over 7000 types of rare diseases have been identified, but there may be as many as 10 876 rare diseases. About 80 percent of rare diseases are of genetic origin and 70 percent manifest in childhood. Globally, 400 million people have a rare disease.
Many rare diseases are characterised by a high unmet clinical need with limited or no approved therapies available. Of the few rare diseases that do have therapies available, two-thirds have only one or two products.
Additionally, the cost burden on families affected by a rare disease is significant and is related to caregiver burden, home changes and costs of secondary treatments.
Up to 36 million people in the European Union (EU) live with a rare disease; some ultra-rare diseases affect only a handful of patients, while other rare diseases affect several hundred thousand people. Delayed diagnosis often complicates therapeutic options because rare diseases are progressive, leading to loss of function, and the systemic impact may be permanent in the absence of early intervention.
Drug development for rare diseases poses unique scientific and operational challenges. The patient population affected by rare diseases is typically small, heterogeneous, and widely dispersed, complicating study enrollment, design, and replication. Designing efficient rare disease clinical trials requires clinically meaningful endpoints and appropriate comparators. Additional difficulties arise from the frequently progressive, life-limiting or -threatening nature of rare diseases.
Recruitment of patients in rare disease trials can indeed be very challenging. Strategies to accelerate patient recruitment could consist of close relationships with key opinion leaders, ascertaining real-life experience and involving them very early in the development program, as well as leading initiatives to improve disease awareness.
In this respect, as compared with other disease areas, the rare disease space is often characteriseds by close connections within the community of patients, caregivers, and patient associations. Each member of the rare disease community plays a central role because of the often-low awareness of these conditions and the high degree of disease complexity and comorbidities.
Companies can play an integral role in the community and improve patient outcomes by better understanding pain points along the entire patient journey and continuously innovating to uncover and address unmet needs.
On the other side, some incentives help sponsor the development of drugs for smaller patient populations, which might not be attractive otherwise. Indeed, rare disease drugs benefit from dedicated incentives from regulators such as orphan status, orphan-drug exclusivity, and different expedited approval processes such as Fast Track, Breakthrough Therapy, Priority Review and Accelerated Assessment both in the US and EU that are meant to accelerate access to patients. In this respect, it's critical to proactively collaborate with regulatory authorities early in the development as well as through the late stages.
About 80 percent of rare diseases are of genetic origin and 70 percent manifest in childhood. Globally, 400 million people have a rare disease.
Also, on the positive side is the fact that rare disease therapies perform better in progressing through clinical developments. Between 2006 and 2015, the chance of a rare disease drug moving from Phase I to approval was about 2.6 times higher than the overall approval rate for drug compounds (about 10 percent).
The area of rare diseases presents us with complex challenges, from limited therapeutic options to the difficulties in conducting clinical trials and securing timely diagnosis. All relevant stakeholders, including pharmaceutical companies committed to rare disease research, play a crucial role. By promoting research, fostering collaboration, raising awareness, and continuously innovating, we can help improve the lives of those impacted by these often-overlooked conditions.
