Rare CNS diseases are attracting more interest and research dollars in the pursuit of so-called niche-busters. CROs have a role to play.

From the extremely rare storage disorder Niemann-Pick Type C1 to the no less devastating amyotrophic lateral sclerosis (ALS), rare central nervous system (CNS) diseases are attracting more interest and dollars from public and private sectors. While blockbusters are still the main attraction, biopharmaceutical companies are pursuing so-called “niche-busters,” that can hopefully provide novel treatments and perhaps even cures to much smaller patient bases, and the lessons learned from these will have a significant spillover effect to other programs like Alzheimer’s disease and Parkinson’s disease. In CNS and neuromuscular disorders, game-changing strategies like “exon skipping,” where patches are used to mask or bypass a faulty section of genetic code that triggers a specific disease, continues to be a popular area for exploration, despite recent shortfalls in the clinic. Given the dearth of in vitro and in vivo models that can be used to test orphan drug compounds—a company might develop a drug designed to repair damage to the mitochondria but lack a high-throughput model to screen it, for instance—companies will be looking for partners to fill gaps in their programs. It is wise for contract research organizations to rise to the challenge and develop the tools that will allow for a quicker and more accurate avenue for drug discovery in order to push more possibilities toward the clinic. This includes validating more pertinent models, investigating the mechanisms of action and making these tools available to those developing drugs that address these various unmet needs.

—Patrick Sweeney, Managing Director, CNS Discovery, Finland