The global orphan drugs market presents many opportunities for new drug development, and advances in drug discovery capabilities, coupled with regulatory and financial incentives, are helping to generate “rich, competitive pipelines of breakthrough treatments with true disease-modifying properties,” according to a new analysis.

While there are currently only 172 approved orphan therapies, the US National Institutes of Health (NIH) estimates that over 6,800 orphan diseases exist, says the study, from Frost & Sullivan. And pharmaceutical and biotechnology companies are now rolling out therapies for serious, rare diseases – going beyond palliative care and targeting the underlying pathology to slow down or stop disease progression – as they value the financial and philanthropic reward this brings, it says.

Rare cancers represent the orphan therapeutic area with the highest level of drug development activity at present, while other areas also witnessing considerable activity include blood/lymphatic system diseases, infectious/parasitic diseases, neurological, metabolic and immunological/inflammatory diseases, the study finds.

“In the past, pharmaceutical and biotechnology companies rarely developed new drugs to treat rare diseases due to the low return on investment realised because of the small patient population,” says Debbie Toscano, life sciences senior analyst at Frost & Sullivan.

Now, however, “drug discovery for orphan diseases is becoming an important element of the business models of numerous small and large pharmaceutical companies looking to strengthen their presence in the global market,” she notes.

As a result, these firms are introducing orphan drugs that use diverse approaches, including small molecules, antisense, gene therapy, monoclonal antibodies, bi-specific antibodies, peptide therapies and stem cell therapies. Currently, such therapies command premium prices due to the huge clinical benefits they offer and the lack of alternative treatments for patients. However, the report forecasts that they will soon have to be sold at competitive prices, because the existing level of reimbursement will become untenable due to the anticipated approval and commercialisation of several orphan drugs for neglected diseases.

“As drug developers abandon the blockbuster model in favour of greater focus on dug development for rare conditions, the global orphan drugs market is becoming increasing competitive,” says Ms Toscana.

“It is imperative that drug developers continually keep a tab on competitors’ pipelines, since approval and reimbursement of new orphan drugs are highly dependent on the availability of alternative therapies,” she adds.