Development and evaluation of Gaucher disease-specific patient reported outcome measurement in Japan

Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study

“…Consistent with a study that reported a negative correlation between disease burden and disease duration in patients with GD2 [ 17 ], in this study, caregiver burden showed a negative correlation trend with caregiving duration, which was assumed to be the same as disease duration, in caregivers of patients with GD2. These results may be explained by the fact that GD2 is a more severe form of GD that typically affects infants [ 3 , 4 ].…”

“…Results indicated that the younger age of caregivers of patients with GD2 compared with caregivers of patients with the other GD types potentially contributed to this observation, suggesting that caregiver age is closely associated with caregiver burden. Moreover, similar trends were observed from the results of the PROM scores, with the highest overall disease burden being observed in patients with GD2 [ 17 ]. Therefore, the results from this study suggest that caregiver burden is also associated with disease severity and patient burden.…”

“…Moreover, the duration of disease was considered as being equivalent to the duration of caregiving; we assumed that these would likely be the same in most cases, although it is theoretically possible for these durations to be different. Finally, detailed information on caregivers' demographics and characteristics (e.g., extent of caregiving), as well as patient characteristics (e.g., treatment), was not described or will be reported separately [ 17 ].…”

“…Stage 3 was conducted between October 17 and December 31, 2021, and included the main survey of the revised PROM and the caregiver questionnaires. The results of the PROM questionnaire from the pre-test and main survey will be reported separately [ 17 ]. The study was conducted in accordance with the protocol, the Declaration of Helsinki, the Guidelines for Good Pharmacoepidemiology Practices, and all applicable laws and regulations.…”

“…Thus, the need to understand HRQOL and the level of burden in patients with nGD and their caregivers is especially relevant in Japan. We recently developed a patient-reported outcome measure (PROM) that can be tailored for use in patients with any type of GD [ 17 ]. The PROM consists of a previous questionnaire developed for GD1 [ 9 ] translated into Japanese, together with additional questions specifically about neurological symptoms, which were developed following qualitative interviews with Japanese patients with nGD and their caregivers [ 18 ].…”