A QUALITATIVE STUDY TO EXPLORE PATIENT PERSPECTIVES ON FUTURE GENE THERAPY FOR LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD) SARCOGLYCANOPATHY SUBTYPES 2E/R4, 2D/R3, AND 2C/R5
Author(s)
Ivana Filipovic Audhya, BSc, MSc1, Alise Nacson, MPH1, Hannah Elizabeth Collacott, BA, MSc2, Natasha Ramachandran, MSc3, Mary Kate Ladd, BSC, MA2, Katherine Gooch, PhD1, Jennifer Whitty, PhD3.
1Sarepta Therapeutics, Cambridge, MA, USA, 2Thermo Fisher Scientific, Wilmington, NC, USA, 3Thermo Fisher Scientific, London, United Kingdom.
1Sarepta Therapeutics, Cambridge, MA, USA, 2Thermo Fisher Scientific, Wilmington, NC, USA, 3Thermo Fisher Scientific, London, United Kingdom.
OBJECTIVES: Limb-girdle muscular dystrophy (LGMD) sarcoglycanopathies are ultra-rare, progressive, degenerative diseases with no approved treatments. Currently, gene therapies are under investigation. Understanding how patients and caregivers perceive gene therapy can inform its acceptability as a future treatment choice. We investigated perspectives on gene therapy among those affected by LGMD sarcoglycanopathies.
METHODS: Eight semi-structured qualitative interviews were conducted with nine US participants: six adults with genetically confirmed LGMD 2C/R5, 2D/R3, or 2E/R4, two caregivers of pediatric patients, and one adolescent patient-caregiver dyad. Interviews explored disease onset and symptom progression, health-related quality of life (HRQoL) impacts, and perspectives on future gene therapy. Data were analyzed using content analysis methods.
RESULTS: Participants reported progressive weakness resulting in diminished mobility including loss of ambulation and upper extremity function for some. Reported HRQoL impacts included physical limitations, emotional challenges, loss of independence and ability to perform self-care. Many expressed optimism about gene therapy’s potential to address the underlying cause of LGMD. Slowing or stabilizing disease progression was a meaningful and important outcome. Other desirable outcomes included the maintenance of or improvements in mobility, muscle strength, and cardiac or respiratory functioning, although most were aware and accepting that gene therapy would likely not regenerate lost muscle. Participants were generally willing to accept potential risks associated with gene therapy, including adverse events and uncertainty around future treatment eligibility, with their risk tolerance influenced by the extent of disease progression. Many were willing to consider gene therapy if data shows the missing protein which is the cause of their disease could be restored, assuming a manageable safety profile.
CONCLUSIONS: These insights highlight the substantial unmet need for LGMD. LGMD participants in this study were largely willing to accept risks and uncertainties in hopes of achieving potential benefits of future gene therapies, such as the slowing of disease progression.
METHODS: Eight semi-structured qualitative interviews were conducted with nine US participants: six adults with genetically confirmed LGMD 2C/R5, 2D/R3, or 2E/R4, two caregivers of pediatric patients, and one adolescent patient-caregiver dyad. Interviews explored disease onset and symptom progression, health-related quality of life (HRQoL) impacts, and perspectives on future gene therapy. Data were analyzed using content analysis methods.
RESULTS: Participants reported progressive weakness resulting in diminished mobility including loss of ambulation and upper extremity function for some. Reported HRQoL impacts included physical limitations, emotional challenges, loss of independence and ability to perform self-care. Many expressed optimism about gene therapy’s potential to address the underlying cause of LGMD. Slowing or stabilizing disease progression was a meaningful and important outcome. Other desirable outcomes included the maintenance of or improvements in mobility, muscle strength, and cardiac or respiratory functioning, although most were aware and accepting that gene therapy would likely not regenerate lost muscle. Participants were generally willing to accept potential risks associated with gene therapy, including adverse events and uncertainty around future treatment eligibility, with their risk tolerance influenced by the extent of disease progression. Many were willing to consider gene therapy if data shows the missing protein which is the cause of their disease could be restored, assuming a manageable safety profile.
CONCLUSIONS: These insights highlight the substantial unmet need for LGMD. LGMD participants in this study were largely willing to accept risks and uncertainties in hopes of achieving potential benefits of future gene therapies, such as the slowing of disease progression.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR130
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), SDC: Rare & Orphan Diseases, STA: Genetic, Regenerative & Curative Therapies