Cybele Gouverneur1, Mallory Harden1, Doug Sproule1, Ariel Rosen2, Lucy Nelson1, Kathryn Bryant Knudson3 and Kelly Brazzo4
1. ML Bio Solutions, Inc., (ML Bio) a BridgeBio Pharma company, Palo Alto, CA, USA; 2. ICON plc, Wake Forest, NC, USA; 3. The Speak Foundation, USA; 4. CureLGMD2i Foundation, Lancaste
Background: Limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) is caused by bi-allelic partial loss-of-function of the fukutin-related protein (FKRP) gene, resulting in hypoglycosylation of alpha-dystroglycan (αDG) and progressive muscle damage in skeletal muscle and cardiac myocytes (muscle cells). Progressive extremity weakness, symptomatic respiratory weakness and left ventricular dysfunction may develop and can be a major cause of morbidity and mortality in LGMD2I/R9. This disease impacts strength in the limb girdle muscles, leading to a loss of mobility and the requirement for mobility assistance devices and caregivers. The progression of LGMD2I/R9 also impacts fatigue, the independence of those living with LGMD2I/R9 and significantly hinders quality of life. There are currently no approved disease modifying treatments for LGMD2I/R9.
Methods: The survey sought to better understand the day-to-day experiences of people living with LGMD2I/R9 and which symptoms have the most impact on their lives. Additionally, the survey aimed to better understand what people living LGMD2I/R9 and their families want to see from potential new treatments or disease modifying therapies and what changes might have the biggest impact on daily life or quality of life. The survey was distributed through LGMD patient advocacy organizations and data were gathered from 100 participants, comprising 69 diagnosed patients and 31 caregivers.
Conclusion: Most surveyed expressed that they would want a treatment that enhances muscle strength, as well as to regain their lost mobility and independence. If a treatment could not reverse muscle loss, there was a substantial interest in therapies that would slow or halt the progression of LGMD2I/R9. Survey results demonstrated that LGMD2I/R9 profoundly affects the physical and mental well-being of those living with LGMD2I/R9 and causes severe limitations on their independence and quality of daily life. Finally, the survey highlighted the urgent need to advance drug development to address the unmet need for those living with LGMD2I/R9.