JMIR Publications

ABSTRACT

Background:

Rare diseases (RDs) affect millions of people worldwide, and the health-related quality of life (HRQoL) for those affected can be severely impacted. Despite this, there is a lack of research regarding the HRQoL for this population living with RDs.

Objective:

This study aims to measure the health-related quality of life HRQoL of patients with various types of RDs in China using EQ-5D-5L.

Methods:

The data used in this study was obtained from a web-based survey conducted in China. We recruited registered and eligible members, including patients or their primary caregivers, of 33 RD patient associations to complete the questionnaire via their internal social media. HRQoL was measured using EQ-5D-5L with the established Chinese value set. Utility scores were estimated based on demographics and disease-related information. Univariate linear regression analysis was used to assess the difference of the EQ-5D-5L utility score between subgroups.

Results:

A total of 12,502 respondents completed the questionnaire and provided valid responses, including 6,919 self-completed patients and 5,583 proxy-completed patients. Approximately 63.2% of patients with RD reported no problems with "self-care," followed by "mobility" (49.6%), "usual activities" (48.2%), "pain/discomfort" (29.1%), and "anxiety/depression" (22.1%). Approximately 6% and 13.6% of self- and proxy-completed patients, respectively, reported a full health state. The mean utility score reported by self- and proxy-completed respondents was 0.691 and 0.640, respectively. Different types of caregivers reported different utility scores, among them, mother-completed patients reported the highest mean utility score.

Conclusions:

The establishment of the normative profile for RD patients can facilitate patients’ adaptation and assess the effectiveness of respective policies to improve the HRQoL and well-being of this population.