6.1 How the agreed definitions for end of life, orphan and ultra-orphan medicines are working in practice
Task and Finish Group Definitions
"A medicine used to treat a condition at a stage that usually leads to death within 3 years with currently available treatments."
"A medicine with European Medicines Agency (EMA) designated orphan status (i.e. conditions affecting fewer than 2,500 people in a population of 5 million) or a medicine to treat an equivalent size of population irrespective of whether it has designated orphan status."
"A medicine used to treat a condition with a prevalence of 1 in 50,000 or less (or around 100 people in Scotland)".
6.1.1 Discussion with stakeholders revealed a general level of satisfaction with the definitions as laid out in the T&FG Report3 (replicated in Table 1 above) and applied in the new approach however a number of cautions were sounded. The satisfaction undoubtedly reflects the experience that the definitions as applied have impacted positively on the ability of patients to gain greater access to new medicines. The cautions relate principally to the assessment of ultra-orphan medicines and are explored further in Section 6.3.
6.1.2 Although it was recognised that there are no standard international definitions for end-of-life, orphan and ultra-orphan medicines, concern was expressed that Scotland has taken a different path from the rest of Europe and the United Kingdom and in particular the National Institute for Health and Care Excellence (NICE) in England. It should be noted that the T&FG in responding to the direction of the then Cabinet Secretary consciously sought to foster enablement and flexibility in the process through the application of these definitions.
6.1.3 The extension of the definition of end-of-life medicines to cover a period of three years, as distinct from the period of two years used by NICE, was generally welcomed by patient groups and the pharmaceutical industry however others felt that this introduced different considerations. In particular the tension between length of remaining life and quality of remaining life is not addressed by the definition and remains unresolved.
6.1.4 In discussion with patients and patient groups some patients seeking access to medicines covered by this definition did not regard themselves as at the end-of-life but saw themselves as seeking active treatment with the hope of achieving remission if not cure.
6.1.5 More generally there was a feeling that while the definitions can helpfully be applied to patients' ability to access medicines they do not relate to outcomes.
6.1.6 While there was general satisfaction with the impact achieved by the introduction of the definitions, concern was expressed about their future utility particularly as they apply to ultra-orphan medicines. While the definitions appear to have supported increased access it is anticipated that therapeutic innovations such as genomics and precision medicine, which are likely to impact within the next few years, could see many more medicines classed as orphan or ultra-orphan and the current definitions may lack necessary specificity going forwards. Likewise, the use of combination therapies is anticipated to increase and the current processes and definitions do not readily lend themselves to assessing medicines used in this way.
6.1.7 In several discussions the term "true-ultra orphan" was used to describe a small number of very rare conditions and the associated medicines used to treat them and several stakeholders felt there would be benefit in introducing this further refinement to the definitions. This is discussed further in Section 6.3.
6 Review the definitions for end-of-life, orphan and ultra-orphan medicines to ensure that the definitions used remain suitable to deal with the assessment of anticipated new treatments such as targeted medicines, increasing use of combination therapies and the impact of genomics.
7 Develop, agree and implement a new definition of "true ultra-orphan medicine" to take account of low-volume, high-cost medicines for very rare conditions.