OBJECTIVES: In April 2014, the Scottish Medicines Consortium (SMC) introduced a patient and clinician engagement (PACE) process for appraisals of medicines for rare conditions, resulting in an increased acceptance rate for orphan drugs to approximately 50%. Multistakeholder involvement is particularly beneficial for orphan diseases where data on clinical experience is limited. This review aims to assess criteria reinforced by PACE in the most recent SMC appraisals for orphan and ultra-orphan diseases.

METHODS: We assessed SMC technology appraisals between January 2022 and March 2023. Key influencers identified during the PACE process were disease symptoms, unmet needs, and quality of life (QoL) among patients and caregivers, especially while accessing new treatments.

RESULTS: Among 16 SMC appraisals meeting the review criteria, nine were for genetic disorders and five for tumours. All 16 appraisals discussed unmet needs wherein need for effective therapy predominated (14/16), followed by impractical dosing/compliance issues and high disease burden due to frequent hospital visits in 2 appraisals, respectively. The impact on patient’s and caregiver’s QoL was discussed in 12 and 11 appraisals, respectively. Disturbed relationships, personal life, and emotional and mental well-being were concerns raised in 8/16 and 5/16 of appraisals by patients and caregivers, respectively. Patients also reported increased dependency on caregivers and medical services (5/16), and distress due to disease symptoms (3/16) as troublesome. Indirect costs and productivity losses were also a concern among patients (5/16) and caregivers (3/16). Improvement in QoL for patients (16/16) and caregivers (13/16) with access to new treatments were also reported.

CONCLUSIONS: The PACE process empowers patients and clinicians to have a voice in SMC decision-making. It is not just limited to unmet needs, but also humanistic burden of disease. Patient’s experiences are helpful in understanding the impact of disease on them and their caregivers and on what improvements new medicines could offer.