Clinical History and Burden of Gaucher Disease Type 3: A Cross‐Sectional Multinational Study
11 affiliations
- 1SphinCS Hochheim Germany
- 2Pediatrics, Hospital Universitario Ramon y Cajal Madrid Spain
- 3Fondazione IRCCS Ca' Granda Policlinico Hospital of Milan Milan Italy
- 4University of Manchester Manchester UK
- 5International Gaucher Alliance (IGA) London UK
- 6Sanofi Bridgewater Massachusetts USA
- 7Prime HCD Knutsford UK
- 8Sanofi Hyderabad India
- 9Global Medical Director Rare Hematology, Sanofi Cambridge Massachusetts USA
- 10Sanofi Reading UK
- 11Pediatric Metabolic and Genetic Disorders, Gazi University Hospital Ankara Turkey
Abstract
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.
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BibTeX
@article{mengel2026clinical,
title = {{Clinical History and Burden of Gaucher Disease Type 3: A Cross‐Sectional Multinational Study}},
author = {Eugen Mengel and Sinziana Stanescu and Alessio Di Fonzo and Aimee Donald and Tanya Collin‐Histed and Laurence Djatche and Idaira Rodriguez Santana and Jagan Mohan Palli and Maria Gabriela Perichon and Ruth Pulikottil‐Jacob and Fatih S. Ezgu},
journal = {JIMD reports},
year = {2026},
month = oct,
doi = {10.1002/jmd2.70127},
url = {https://europepmc.org/article/PMC/PMC13722778},
note = {CC BY},
}
RIS
TY - JOUR
TI - Clinical History and Burden of Gaucher Disease Type 3: A Cross‐Sectional Multinational Study
AU - Eugen Mengel
AU - Sinziana Stanescu
AU - Alessio Di Fonzo
AU - Aimee Donald
AU - Tanya Collin‐Histed
AU - Laurence Djatche
AU - Idaira Rodriguez Santana
AU - Jagan Mohan Palli
AU - Maria Gabriela Perichon
AU - Ruth Pulikottil‐Jacob
AU - Fatih S. Ezgu
PY - 2026
DA - 2026/10/30
JO - JIMD reports
DO - 10.1002/jmd2.70127
UR - https://europepmc.org/article/PMC/PMC13722778
AB - 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.
SN - 2192-8304
SN - 2192-8312
ER -