Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey

Abstract Background This study assessed quality of life (QoL) changes over time amongst caregivers of patients with alpha-mannosidosis, a rare autosomal recessive lysosomal storage disorder with progressive multi-systemic effects. An international online survey was distributed to caregivers of patients aged ≥ 10 years, including visual analogue scales (VAS; timepoints 5 years prior and current) and multiple choice and open text questions. Survey questions related to five QoL domains (physical health, mental health, family and social life, relationships with partners/family/friends and ability to work/attend education). Results Forty-three caregiver responses from 16 countries were analysed. Caregivers looked after 43 patients: 16 untreated patients (UP), six who had undergone allogenic haematopoietic stem cell transplantation (HSCT) and 21 receiving enzyme replacement therapy (ERT). From 5 years prior to the time of survey participation, physical health slightly improved for caregivers of ERT and HSCT patients (mean ± standard deviation changes in VAS − 0.1 ± 2.8 and − 0.2 ± 1.2, respectively) but slightly declined among UP caregivers (+ 0.7 ± 0.9). Mental health improved for caregivers of HSCT patients (-1.0 ± 4.7) but stabilised and worsened for ERT and UP caregivers, respectively (ERT: 0.0 ± 2.3; UP: +1.4 ± 1.9). Family and social life scores improved among caregivers of HSCT patients (-1.0 ± 3.5) but slightly declined and worsened for ERT (+ 0.1 ± 2.3) and UP (+ 1.1 ± 1.4) caregivers, respectively. Relationship scores slightly improved for caregivers of ERT and HSCT patients (both − 0.2) but worsened among UP caregivers (+ 1.3 ± 1.7). There were slight improvements in ability to work or attend education for caregivers of ERT and HSCT patients. Conclusions Although a causal relationship between disease-modifying treatment and caregiver QoL could not be determined, mostly due to small subgroup sizes and age differences between HSCT patients, ERT patients and UP, caregivers of patients receiving ERT or HSCT generally experienced stable or improved/slightly improved QoL outcomes over the 5-year study period. In contrast, caregivers of UP consistently reported deterioration across physical, mental, social and relational QoL domains. These patterns suggest that access to disease-modifying treatment could help mitigate declines in caregiver QoL, highlighting the need to routinely assess caregiver-reported outcomes and support caregiver needs alongside patient management in alpha-mannosidosis.