Rare diseases are defined by the United Kingdom and European Union as affecting about one in 2,000 people. Collectively, however, such conditions are not really rare. There are an estimated 6,000 to 8,000 individual rare diseases that impact the lives of about 3.5 million people in the UK and 30 million across Europe.
In the UK, getting access to care and especially new treatments for such conditions has often been a challenge. The National Institute for Health and Care Excellence (NICE) advises the UK National Health Service (NHS) on whether a new medicine is cost-effective and should be covered by the NHS. However, the way in which NICE determines the value of a new treatment has changed little in over 20 years and has frequently resulted in significantly delayed or limited coverage for innovative – but expensive – new therapies. This situation has particularly impacted new treatments for rare conditions, due to the difficulty of providing clear evidence of cost-effectiveness for a medicine used by few patients.
Now the situation is changing. An updated version of the UK Rare Disease Framework, published in January 2021, has set out a national vision for delivering better health outcomes and improving the lives of those with rare diseases. The aim of the updated Rare Disease Framework is four-fold: to help patients reach a diagnosis faster; to improve awareness of rare diseases among health care professionals; to better coordinate and manage care; and to increase access to medical specialists, drugs and other treatments.
As part of the efforts to meet the fourth goal, NICE is aiming to simplify and streamline its drug/device assessment process to enable more flexible and faster decision-making for both rare diseases and serious conditions that affect children. Drugs for more severe diseases, including less rare conditions with a high impact on overall health such as multiple sclerosis and epilepsy, will be given a higher quality adjusted life-year (QALY) weighting (a measure of the duration and quality of life central to cost-effectiveness analyses) in the decision-making process, as such medicines can be used to treat the patient at any stage in their illness. For rare diseases, NICE plans to remove criteria that the condition being treated should be “chronic and severely disabling” and require life-long use, requirements considered by NICE to be redundant and potentially limiting with the introduction of one-off gene therapies. Instead, inclusion criteria will now only reflect the rarity of the disease, its impact on health, and the lack of established treatment options.
The institute will furthermore make it easier for companies with “promising but clinically uncertain medicines to offer their treatments at a reduced cost while more evidence is gathered” – a stance similar to the “Accelerated Approval” used by the FDA or early access programs used in continental Europe to provide faster access to such treatments. A drug receiving the UK accelerated approval can later be fully approved or removed from the market when more data on clinical outcomes emerges. The changes are expected to initiate in January 2022.
Additionally, in July, the NHS announced a new £340 million fund aimed at fast-tracking patient access to advanced treatments for serious conditions where effective therapies are greatly needed. The “Innovative Medicines Fund” (IMF) is intended to give patients early access to the most clinically promising treatments before NICE fully approves them for routine prescription on the NHS. It is an extension and supplement to the decade-old £340 million “Cancer Drugs Fund,” but will cover innovative medicines for patients with any condition, including cutting-edge but costly gene therapies for rare and genetic diseases.
Some inequities and questions still remain. Residents of Wales and Northern Ireland will not be eligible for participation in the funding (Scotland has its own fund to help pay for innovative new treatments). The NHS has not yet published details on how it will select products for coverage or how the fund will interact with NICE. Moreover, depending on the limited funding pool and the criteria the IMF uses to select treatments for coverage, some products are likely to remain ineligible. However, the new fund is reportedly seen by the British Pharmaceutical Association as sending a signal to the global pharmaceutical industry that the UK is serious about using innovative new technologies, which in turn could help drive further investment in the UK life sciences.
In 2019, Italy also updated its National Health Plan to address advances in innovative treatments for rare diseases. Italy’s national health service, the Servizio Sanitario Nazionale, offers free universal coverage for in-patient and primary care, with patient co-pays for diagnostics and medicines. The update includes a list of diseases that are exempted from co-pays for “applicable and effective” products and services to treat and monitor known rare diseases and prevent an affected patient’s further deterioration. Italy has created two special budgets of €500m each to fund innovative drugs for three years after their launch and has granted innovative status to about 72% of orphan drugs, which allows them to be eligible for funding and included in regional formularies. As a result, treatments for 87.4% of orphan disease indications are partially or totally reimbursed via early access programs since the policy update.