Orphan Fundamentals Steady
The core drivers of orphan drug R&D remain strong. Legally-encoded incentives to develop drugs for rare diseases – including tax credits, fee waivers, and seven years of market exclusivity (in the US; ten in the European Union) – are working. FDA has approved over 40 cell- and gene-therapies.
Plenty of growth potential remains. Today’s orphan drugs address barely more than 5% of all rare diseases5. Several address conditions, such as multiple myeloma or sickle cell disease, which affect many tens of thousands of patients. Campaigners continue to call for further (or different) incentives to develop drugs for ‘ultra-rare’ diseases, where low numbers make conventional R&D methods and metrics even more challenging. (No formal definition or prevalence threshold exists for ultra-rare diseases.)
Orphan R&D is benefiting from AI-powered changes across biopharma and care delivery. In Silico Medicine claims to have discovered and taken to pre-clinical candidate stage its orphan-designated TNIK inhibitor6 rentosertib in just 18 months, thanks to AI-powered target discovery and compound design. The small molecule has completed Phase 2a trials in idiopathic pulmonary fibrosis.
It’s too early to showcase AI’s full impact on R&D, though. Rentosertib remains un-partnered and un-approved, and no other AI-discovered drug, orphan or other, has reached patients. But the technology is already helping diagnosis – interpreting scans, for example – and will likely play a growing role in detecting symptom clusters specific to certain rare diseases. Many of these symptoms may match those of more common conditions, which can delay diagnosis and make treatment even more challenging. Faster, more reliable rare disease diagnosis and more accurate symptom tracking should accelerate drug development by making it easier to find patients and helping identify biomarkers and define trial endpoints.
Today’s orphan drugs address barely more than 5% of all rare diseases.
