Use of Health-Related Quality of Life (HRQoL) Outcomes/Patient-Reported Outcomes (PROs) in Rare Hematological Disease (RHD) Health Technology Assessment (HTA) Submissions

OBJECTIVES: HRQoL/PRO outcomes are highly valued by patients and payer bodies. The use of HRQoL outcomes in rare diseases is important to understand, given the relatively limited research and unmet need in this area. The objective of this review was to assess the frequency and types of HRQoL outcomes in HTA submissions for RHDs.

METHODS: The HTA agency websites of NICE, SMC, CADTH, HAS, IQWiG and G-BA were reviewed for completed submissions for 32 RHDs. Data regarding frequency and type of HRQoL used were collected.

RESULTS: Across HTAs, 125 unique submissions in 25 different RHDs were identified and reviewed (11, 28, 23, 27, 27, and 9 from NICE, SMC, CADTH, HAS, IQWiG, and G-BA, respectively). A total of 54 (43%) submissions reporting HRQoL/PRO were identified. Hemophilia, ITP, myelofibrosis, polycythemia vera, and paroxysmal nocturnal hemoglobinuria being the most common RHDs for which HRQoL was assessed. Of the 41 different scales reported, EQ-5D and VAS, EORTC QLQ-C30, SF-12, SF-36, and FACIT-fatigue were the most common generic measures reported. Generic scales were mostly reported for myelofibrosis, polycythemia vera, and paroxysmal nocturnal hemoglobinuria (≥3 submissions). Disease-specific scales were most often used in hemophilia submissions (5), followed by ITP and myelofibrosis (3 each). The most common disease-specific measure included several versions of the hemophilia-QOL scale. The following outcomes were reported in two or fewer submissions: (generic scales) PGA, MSAS, GCS, SMMSE, PROMIS Fatigue, LAAS, BPI, PedsQL; (disease-specific scales) CHO-KLAT, DLQI, EPP-QOL, EmiPref Survey, versions of FACT, FACIT-Th, ITP-PAQ, MF-SAF, MF-8D, MPN-SAF TSS, PPEQ, MCD total symptom score, SQ-ISHI, TranQoL, and WPAI.

CONCLUSIONS: Rare diseases have an impact on HRQoL of both patients and caregivers. Our research suggests varying degree of HRQoL/PRO use across HTA submissions. Further research is warranted to identify the complexities in measuring the HRQoL in patients with RHD and how they can be incorporated in submissions.