Clinical History and Burden of Gaucher Disease Type 3: A Cross-Sectional Multinational Study

Gaucher disease Type 3 (GD3) is a rare genetic neurodegenerative disorder, characterized by heterogeneity in symptom burden, disease severity, and progression. There is limited evidence on the burden of GD3. This retrospective, cross-sectional study estimated the burden of illness associated with GD3 using descriptive analyses of clinician- and patient/caregiver-reported data from Germany, Italy, Spain, Turkey, the UK, and the US. A total of 79 patients were enrolled in the study; 39 patients and 38 caregivers completed the patient/caregiver survey. The majority of patients were male (74.7%) and under 18 years old (55.7%), with an average age at index (study enrolment date) of 17.0 years (SD = 9.0). Patients received a GD3 diagnosis at a mean age of 8.2 years (SD = 6.4). The most common first non-neurological symptoms experienced were splenomegaly (49.4%), anemia (44.3%), and enlarged abdomen (43.0%), while the first most common neurological manifestations reported included eye movement disorders (54.4%), epilepsy (35.4%), and neurodevelopmental delay (34.2%). Approximately half of patients experienced falls (55.7%) or difficulty with personal care (53.2%). Nearly half of patients (45.6%) had at least one hospitalization, with a mean (SD) of 2.1 (1.7) hospitalizations per patient, in the 2 years pre-index. Caregivers were predominantly female (86.8%) and provided an average of 63.3 h of care per week (SD = 40.2). They reported high work impairment (70.3%, SD = 22.0; WPAI) and reduced quality of life (CarerQoL-7D mean = 67.0, SD = 15.8). This study characterizes the real-world burden of GD3, providing an up-to-date, multinational perspective on its clinical history and impact on patients, caregivers, healthcare systems, and society.