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.