OBJECTIVES: HRQoL/PRO endpoints are heavily weighed by patients and payer bodies. Disease-specific scales may be less available and not validated in rare conditions, making the accurate determination of HRQoL in these patients difficult. Our objective was to understand how frequently disease-specific scales are used in RICs trials and how HRQoL outcomes are incorporated in National Institute for Health and Care Excellence (NICE) health technology assessments (HTAs) in these populations.

METHODS:

For 24 identified RICs, a review of ClinicalTrials.gov from the last five years was undertaken using indication names and “quality of life” search terms. Data regarding the HRQoL/PRO scales used and the frequency of disease-specific HRQoL scales were extracted. HTAs from NICE were reviewed for each indication to understand if and how payers incorporate HRQoL assessments in their submissions and comments on use of scales were collected.

RESULTS: No clinical trials reporting HRQoL were identified for two RICs (hereditary chronic cholestasis, cryopyrin fevers). A total of 839 trials in 22 RICs were identified and reviewed. HRQoL/PRO scales were reported in 689 trials (82.1%) and the majority (58.9%) of clinical trials listed a least one disease-specific scale as a secondary outcome. Conditions that frequently used disease-specific scales were hereditary angioedema (100%), primary biliary cholangitis (87%), myasthenia gravis (81%) and multiple sclerosis (71%). Despite the relatively high frequency of disease-specific scales seen in clinical trials, of 25 NICE appraisals, only 10 submissions included disease-specific scales; 2 mapped them to EQ-5D. Disease-specific scores were not translated into utilities in 5 submissions due to absence of validated mapping methods and/or evaluators’ concerns with the validity of results.

CONCLUSIONS:

Patients with RICs have poor HRQoL; its assessment is crucial for designing a patient-centric approach to assessment of outcomes in clinical trials. While disease-specific scales are commonly used in clinical trials, their incorporation into HTA submissions is limited.