OBJECTIVES: Rare diseases are often associated with a considerable burden for patients and their caregivers. Non-professional care is common, typically provided by family and friends. This study assessed whether patients’ health-related quality of life (HRQoL) is associated with the requirement for non-professional care across five rare diseases.

METHODS: We analysed real-world data from Adelphi Disease Specific Programmes for five rare diseases: Amyotrophic Lateral Sclerosis (ALS), Graft-Versus-Host Disease (GVHD), Huntington’s Disease (HD), Myasthenia Gravis (MG), Progressive Supranuclear Palsy (PSP) in the USA, France, Germany, Italy, Spain, UK; July 2017 to March 2021. Physicians provided cross-sectional data on patients’ demographics and non-professional care requirements whilst patients self-reported HRQoL via the EQ-5D. Multivariable logistic regression assessed the relationship between patients’ EQ-5D utility and presence of a non-professional caregiver, controlling for patients’ characteristics (age, sex, geographic location, and disease).

RESULTS: The analysis included 823 patients with a mean (standard deviation [SD]) age of 55.8 (14.5) years; 58.6% were male; 23.0% from the USA. 12.0%, 28.6%, 5.7%, 37.9%, and 15.8% of patients had ALS, GVHD, HD, MG, and PSP, respectively. Patients had a mean (SD) EQ-5D utility of 0.64 (0.24). Non-professional caregivers were reported for 49.8% of patients (range 37.8% MG – 60.8% PSP). Multivariable regression showed a significant (p<0.001) association between EQ-5D utility and presence of a non-professional caregiver (odds ratio 0.037; 95% confidence intervals 0.014-0.097), indicating that an increase of 0.1 in EQ-5D utility is associated with a 28% decrease in the odds of receiving non-professional care. Additionally, older patients, and those with GVHD (using MG as a reference category), were significantly more likely to receive non-professional care.

CONCLUSIONS: Results showed a significant, negative association between patients’ EQ-5D utility and requirement for non-professional care, indicating that improvements to HRQoL in individuals with rare diseases may lead to a reduced burden on family and friends.