CAPTURING WHAT MATTERS: CO-CREATING A GLOBAL SURVEY ON NEUROLOGICAL IMPACT AND UNMET NEEDS IN GAUCHER DISEASE TYPE 3
Author(s)
Tanya L. Collin-Histed1, Helen Lycett, MSc2, Samantha Wiseman, BSc2, Jackie Boylan, PhD2, Cristina Cardoso, MSc Pharm3, Sandrine Mauray, PhD4, Lasair OCallaghan, MPH, MPhil5, Maria Gabriela Perichon, MD5, Alex Morrison, MSc2.
1CEO, International Gaucher Alliance, London, United Kingdom, 2Rare Disease Research Partners, Amersham, United Kingdom, 3Sanofi, Lyon, France, 4Sanofi, Paris, France, 5Sanofi, Boston, MA, USA.
1CEO, International Gaucher Alliance, London, United Kingdom, 2Rare Disease Research Partners, Amersham, United Kingdom, 3Sanofi, Lyon, France, 4Sanofi, Paris, France, 5Sanofi, Boston, MA, USA.
OBJECTIVES: Gaucher disease Type 3 (GD3) is characterised by a range of neurosystemic symptoms that can significantly impact patients and caregivers’ lives. Low awareness of neurological symptoms and their burden may contribute to missed or delayed diagnosis and unmet clinical needs. Greater understanding of patient and caregiver experiences is needed to inform future research and care approaches. Phase 1 of this ongoing study aimed to inform the development of a global survey for patients and caregivers on neurological symptoms, disease burden, and unmet needs in GD3.
METHODS: Two 90-minute online qualitative co-creation workshops with patients and caregivers were conducted including eight countries (Czech Republic, Germany, Lithuania, Pakistan, Sweden, Turkey, UK, US) from January-March 2026. Thematic analysis was conducted to analyse the responses.
RESULTS: Among eleven participants (4 patients, 7 caregivers), neurological symptoms had a substantial multidimensional impact on functioning, independence, quality of life, and emotional well-being. Participants reported persistent unmet needs, including no treatment for neurological symptoms, limited financial support, treatment burden, non-visible disability, and impacts on education and employment. Caregiver burden was considerable and driven by the need for ongoing caregiver supervision, reduced patient independence, and anxiety associated with unpredictable events such as seizures. While even small functional improvements were perceived as meaningful, existing clinical measures were often considered insufficient to capture fatigue, the effort required to complete activities, psychological impact, day-to-day fluctuations in symptom severity and functional ability, and the overall burden of disease. These insights will inform the survey content.
CONCLUSIONS: Findings demonstrate a high burden and considerable unmet needs among patients with GD3 and their caregivers. Through co-creation with the community, a global GD3 survey will be developed to ensure findings will accurately capture lived experiences.
Acknowledgement: We thank IGA’s GD3 Community Advisory Board for their participation and contributions.
METHODS: Two 90-minute online qualitative co-creation workshops with patients and caregivers were conducted including eight countries (Czech Republic, Germany, Lithuania, Pakistan, Sweden, Turkey, UK, US) from January-March 2026. Thematic analysis was conducted to analyse the responses.
RESULTS: Among eleven participants (4 patients, 7 caregivers), neurological symptoms had a substantial multidimensional impact on functioning, independence, quality of life, and emotional well-being. Participants reported persistent unmet needs, including no treatment for neurological symptoms, limited financial support, treatment burden, non-visible disability, and impacts on education and employment. Caregiver burden was considerable and driven by the need for ongoing caregiver supervision, reduced patient independence, and anxiety associated with unpredictable events such as seizures. While even small functional improvements were perceived as meaningful, existing clinical measures were often considered insufficient to capture fatigue, the effort required to complete activities, psychological impact, day-to-day fluctuations in symptom severity and functional ability, and the overall burden of disease. These insights will inform the survey content.
CONCLUSIONS: Findings demonstrate a high burden and considerable unmet needs among patients with GD3 and their caregivers. Through co-creation with the community, a global GD3 survey will be developed to ensure findings will accurately capture lived experiences.
Acknowledgement: We thank IGA’s GD3 Community Advisory Board for their participation and contributions.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
HSD16
Topic
Health Service Delivery & Process of Care, Patient-Centered Research, Study Approaches
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases