In England, February 2022 has seen the lifting of all COVID-19 restrictions. As we cautiously enter a “new normal” after the disruption caused by the pandemic, there is renewed focus on previous healthcare priorities. The development and commercialization of innovative treatments for rare diseases has long been an area of considerable attention for both healthcare systems and manufacturers. Although, by definition, these conditions are uncommon, it is estimated that one in 17 people will be affected by a rare disease in their lifetime, underlining the importance of finding effective treatments.
On February 28, Rare Disease Day, National Health Service (NHS) England published its first Rare Disease Action Plan. The plan identifies national priorities to improve the lives of people affected by rare diseases. One of these is improved access to specialist care, treatment and drugs. This reflects the long-standing challenge of access to treatments for rare diseases: for some conditions, there are simply no or limited effective treatment options; for other conditions, innovative medicines come at prohibitive expense with reimbursement restricted.
Within England, there are various schemes to promote access to novel, high-cost treatments for rare disease. These pathways are intended to support access to treatments at different stages in their development.
- A scheme to support healthcare manufacturers throughout development of their products is the Innovative Licensing and Access Pathway (ILAP). The ILAP was established in 2021 and is a collaboration among U.K. partner agencies: the Medicines and Healthcare products Regulatory Agency (MHRA), England’s National Institute for Health and Care Excellence (NICE), the Scottish Medicines Consortium (SMC) and the All Wales Therapeutics and Toxicology Centre (AWTTC). Through this pathway, if a medication meets a number of pre-specified criteria—one of which is being a medicine for rare disease—it can be granted an ILAP “innovation passport.” Once given this status, ILAP partner agencies will work with the manufacturer to give expert advice and support with an aim of accelerating time to market, for example, by streamlining the evidence generation required for marketing authorization and health technology assessment
- Following marketing authorization, the Innovative Medicines Fund (IMF) is a route for early access to promising drugs for rare disease and is in the process of being established. Detailed proposals for the IMF are subject to recent public consultation; however, such consultation is expected to be similar to England’s Cancer Drugs Fund (CDF). The IMF will help patients gain access to innovative medicines that demonstrate clinical promise but still have uncertainty around their long-term value in terms of clinical effectiveness and cost-effectiveness. Evidence generated through patient use under the fund can then be used to inform a final recommendation by NICE
- Finally, a critical pathway for accessing any new approved medicine in England is NICE assessment. NICE has recently announced updated methods that include changes that could promote access to innovative treatments for rare disease. For example, changes have been made to increase the efficiency and clarity of NICE’s Highly Specialised Technologies (HST) program, a pathway for treatments of very rare conditions that uses a higher willingness-to-pay threshold than usual technology assessment and considers benefits beyond direct health improvements. There are also broader changes to assessment that will see more weight given to health benefits in the most severe conditions and more flexibility when assessing treatments for which generating evidence is particularly difficult (e.g., treatments for orphan conditions)
The routes to access for innovative treatments for rare diseases remain complex. In England alone, there are numerous schemes to take account of, and when you contemplate developing a treatment for launch across multiple markets, the considerations quickly multiply. It is apparent that to be successful, manufacturers of innovative treatments for rare conditions need to have up-to-date and in-depth knowledge of each market’s pathways and processes. An approach to address this complexity—and enable rapid and equitable access to treatments for rare disease—could be more international collaboration. For example, the European Rare 2030: Foresight in Rare Disease Policy report published in 2021 advocates for the streamlining of regulatory, pricing and reimbursement policies for treatments for rare disease, with the suggestion that postmarketing decisions and reports for orphan medicinal products should not occur on a country-by-country basis but at a pan-European (or even global) level. In the case of advanced therapy medicinal products, the report suggests that a shared European fund could be established, which would support the practicalities of patients receiving care in different countries as well as spread the financial risk associated with highly expensive treatments.
We are currently at a time of “reset” following the impact of COVID-19. During the pandemic, it was apparent that in the face of a crisis, cross-country negotiations and collaboration can drive the rapid development of and access to innovative healthcare technologies. As we reflect on lessons learned in the last two years, perhaps that of effective international partnership could be seen as useful ground work for future discussions to accelerate and improve access to medicines for rare conditions for all patients who need them.