Medicines access just one of many things worth fighting for this Rare Disease Day
New analysis conducted by Newmarket Strategy to mark Rare Disease Day illustrates the ongoing challenge of bringing forward new treatments for people living with a rare disease.
Our analysis of NICE Single Technology Appraisals (STAs) of medicines in the last five years reveals that orphan medicines (ie. those used to treat a rare condition) were subject to a longer mean duration process than non-orphan medicines. Further, a higher proportion of orphan STAs required more than one Appraisal Committee Meeting (ACM), compared to non-orphan STAs.
We also found that in general, orphan STAs had worse appraisal outcomes; 43% of orphan STAs were either rejected or resulted in an ‘optimised’, (ie. restricted) decision, compared to medicines assessed via the Highly Specialised Technology evaluation (HST) route (usually reserved for only the very rarest conditions), which all resulted in a positive recommendation.
The slower appraisal timelines and poorer outcomes for orphan medicines will be explained in part by data uncertainties inherent to rare diseases, including small population sizes in pivotal clinical trials and difficulties in measuring patient outcomes. Effort by NICE to address these challenges has resulted in recent years in a range of proposed and actual reforms, including flexibility in what it will accept as evidence and the use of ‘modifiers’ introduced to help outline the benefits of health technologies for severe conditions. 
Meeting this challenge by one of the world’s most respected health technology agencies is not only the right thing to do for patients, but is also in the wider interest of UK industry. Efforts by pharmaceutical companies are welcome too – both in how they plan and conduct their research and also in their willingness to invest in UK clinical trials. A robust, yet accommodating, reimbursement framework is essential if the UK is to lead the global competition here.
There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK. Gaining access to the latest treatment is merely one of many delayed opportunities for improved health experienced by people living with a rare condition. It can take years for rare disease patients to receive a final diagnosis from the onset of their symptoms and access to specialist care can be frustrating and not always equally available. Furthermore, research and development of treatments for rare diseases has traditionally been neglected in favour of more common diseases. The observed delays in reimbursement related decision-making for orphan medicines adds further disadvantage for people living with a rare condition.
This Rare Disease Day, Newmarket Strategy is pleased to join colleagues and friends from across the UK and around the world in support of efforts by the life science industry and its partners to improve health outcomes for people living with serious conditions, no matter how rare they are.