Prioritisation and optimisation

Addressing therapeutic areas with currently no treatment and to support the delivery of continued innovation for rare diseases where treatments exist.

For most of the 6000-8000 rare diseases, there is no treatment available. Despite the growth in authorised OMPs, 95% of rare diseases remain without authorised treatment up until today.

While any medicinal development path is costly and failure-ridden, the complexities and risks are even higher for OMPs. The small number of patients affected by a given rare disease attracts few attention and funding in the research community, makes research and clinical trial studies more difficult, complicates regulatory approval and makes the business case less attractive for pharma companies.

Despite the increase of approved Orphan Drugs since the introduction of the OMP regulation, a consistent investment in and development of OMPs has not been fully achieved. While rare diseases were viewed as one homogenous group in the past, united by a general lack of treatments, this is no longer the case today. First, rare diseases today are split into those for which there are multiple treatment options and those for which there is no treatment at all. Second, orphan drug development activity differs greatly across the rare disease’s spectrum, between different disease areas and between adult and child patients.

In the past 20 years, we have seen treatments emerge for a limited number of rare diseases with most of the research focused on rare diseases for which treatment already exists: of all authorised OMPs between 2000 and 2017, 72% target diseases that have at least one other authorised treatment available. Conversely, only 28% of authorised OMPs target rare diseases for which there is no authorised treatment.

On the other hand, innovation and multiple treatment options in a specific disease area can benefit patients, healthcare professionals, and health authorities. Several treatment options create a competitive environment, which ultimately leads to greater affordability, unburdens healthcare budgets and increases patient’s accessibility to Orphan Drugs.

This Focus Group aims to understand the reasons and barriers for uneven delivery of innovation in areas of high unmet medical need and propose solutions to address these gaps and to support delivery of continued innovation for rare diseases where treatments exist.