INTANGIBLE BURDENS AND THEIR RELENTLESS IMPACTS: BEYOND THE FINANCIAL COSTS OF LYSOSOMAL STORAGE DISORDERS (FABRY DISEASE, GAUCHER DISEASE TYPE 3, AND GM2 GANGLIOSIDOSES)
Author(s)
Lasair OCallaghan, BA, MPH, MPhil1, Aviva Rosenberg, JD2, Robert Stevens, NA3, Dan Brown, MSc4, Daniel Lewi, MSc5, Diana Jussila, BA6, Jack Johnson, BFA7, Kathleen Flynn, BA6, Sophie Thomas, HDipSW3, Christina A. Graham, BS, BA8, Emily Ruzich, PhD8, Regina Duran, MPH9, Nicole Lyn, MPH1, Feyriel Bouaraba, PharmD, MSc1, Cristina Cardoso, PharmD10, Robert Krupnick, PhD8.
1Sanofi, Cambridge, MA, USA, 2Gaucher Community Alliance, St. Pittsburgh, PA, USA, 3MPS Society, Amersham, United Kingdom, 4Gaucher Association, London, United Kingdom, 5Cure and Action for Tay–Sachs, Altringham, United Kingdom, 6National Tay–Sachs and Allied Diseases Association, Boston, MA, USA, 7Fabry Support and Information Group, Concordia, MO, USA, 8IQVIA, Boston, MA, USA, 9IQVIA, Mexico city, Mexico, 10Sanofi, Lisbon, Portugal.
1Sanofi, Cambridge, MA, USA, 2Gaucher Community Alliance, St. Pittsburgh, PA, USA, 3MPS Society, Amersham, United Kingdom, 4Gaucher Association, London, United Kingdom, 5Cure and Action for Tay–Sachs, Altringham, United Kingdom, 6National Tay–Sachs and Allied Diseases Association, Boston, MA, USA, 7Fabry Support and Information Group, Concordia, MO, USA, 8IQVIA, Boston, MA, USA, 9IQVIA, Mexico city, Mexico, 10Sanofi, Lisbon, Portugal.
OBJECTIVES: Fabry disease (FD), Gaucher disease type 3 (GD3), and GM2 gangliosidoses (GM2) are rare, progressive lysosomal storage disorders (LSDs) that impose substantial tangible costs (e.g., medical expenses, resource utilisation) and intangible burdens (e.g., psychological, social, and functional impairments) on patients and caregivers; however, intangible burdens of LSDs remain poorly characterised. This study qualitatively examined the intangible burdens of LSDs in the United States and United Kingdom and investigated their relationships with tangible costs.
METHODS: Four independent focus groups were conducted with adult patients with FD and GD3 and caregivers, followed by 30 individual interviews with adolescent and adult patients with FD, GD3, and GM2 and their caregivers.
RESULTS: In total, 43 participants (patients and caregivers: n = 24 and 19; FD [n = 15 and 13], GD3 [n = 5 and 4], and GM2 [n = 4 and 2]) were included in this study. The predominant intangible burdens included life disruption (patients and caregivers: 94.0% and 100.0%), psychological/emotional distress (94.0% and 100.0%), and social withdrawal (77.0% and 85.0%), which were largely consistent across all LSDs and affected the daily lives of patients and caregivers. Cognitive impairment, a central nervous system manifestation of GD3 and GM2, considerably amplified the intangible burdens. These burdens were linked to the commonly reported tangible costs, including costs for medications to manage symptoms (53.0% and 39.0%) and for obtaining medical treatment (71.0% and 77.0%). While considering desired impacts of future treatments, all participants emphasised the importance of reducing costs for obtaining medical treatment and decreasing life disruption and psychological distress.
CONCLUSIONS: The study elucidated the pervasive, profound, and relentless nature of intangible burdens of LSDs and a bidirectional relationship with tangible costs, culminating in substantial impact on patients and families. Understanding these intangible burdens is integral for developing patient-centred future therapies and incorporating comprehensive value assessment frameworks in LSDs.
METHODS: Four independent focus groups were conducted with adult patients with FD and GD3 and caregivers, followed by 30 individual interviews with adolescent and adult patients with FD, GD3, and GM2 and their caregivers.
RESULTS: In total, 43 participants (patients and caregivers: n = 24 and 19; FD [n = 15 and 13], GD3 [n = 5 and 4], and GM2 [n = 4 and 2]) were included in this study. The predominant intangible burdens included life disruption (patients and caregivers: 94.0% and 100.0%), psychological/emotional distress (94.0% and 100.0%), and social withdrawal (77.0% and 85.0%), which were largely consistent across all LSDs and affected the daily lives of patients and caregivers. Cognitive impairment, a central nervous system manifestation of GD3 and GM2, considerably amplified the intangible burdens. These burdens were linked to the commonly reported tangible costs, including costs for medications to manage symptoms (53.0% and 39.0%) and for obtaining medical treatment (71.0% and 77.0%). While considering desired impacts of future treatments, all participants emphasised the importance of reducing costs for obtaining medical treatment and decreasing life disruption and psychological distress.
CONCLUSIONS: The study elucidated the pervasive, profound, and relentless nature of intangible burdens of LSDs and a bidirectional relationship with tangible costs, culminating in substantial impact on patients and families. Understanding these intangible burdens is integral for developing patient-centred future therapies and incorporating comprehensive value assessment frameworks in LSDs.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR136
Topic
Economic Evaluation, Patient-Centered Research
Topic Subcategory
Patient Engagement, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Genetic, Regenerative & Curative Therapies, Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Neurological Disorders, Rare & Orphan Diseases, Systemic Disorders/Conditions (Anesthesia, Auto-Immune Disorders (n.e.c.), Hematological Disorders (non-oncologic), Pain)