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4.85eP Long-term survival, quality-adjusted life-years, and economic burden in limb-girdle muscular dystrophy type 2I/R9: a health outcomes model
Abstract   Peer reviewed

4.85eP Long-term survival, quality-adjusted life-years, and economic burden in limb-girdle muscular dystrophy type 2I/R9: a health outcomes model

Chet Villa, Lucille Sun, Karen Bartley, Dimah Saadé, Michelle Staron-Ehlinger, Anna Talaga, David Veenstra, Lisa Bloudek, Sajin Mathew and Katherine Mathews
Neuromuscular disorders : NMD, Vol.67(Suppl 1), 107318
10/2026
DOI: 10.1016/j.nmd.2026.107318

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Abstract

Limb-girdle muscular dystrophy 2I/R9 (LGMD2I/R9), a rare progressive neuromuscular disorder caused by FKRP variants, leads to defective α-dystroglycan glycosylation. LGMD2I/R9 is characterized by progressive muscle weakness, loss of ambulation (LOA), cardiomyopathy, and respiratory decline. Long-term outcomes and life expectancy are poorly defined. We developed a health outcomes model to assess life expectancy, quality-adjusted life-years (QALYs), and lifetime medical costs. A Markov state-transition model estimated life expectancy in life-years (LYs), QALYs, and health care costs in patients (pts). Model inputs were derived from a targeted literature review evaluating risks of key clinical complications (ambulation, respiratory decline, cardiomyopathy). Mortality risk was informed by published data describing associations among cardiomyopathy, noninvasive ventilation, and mortality. Each model cycle represented 1 year. Deterministic 1-way sensitivity and scenario analyses evaluated model robustness. In the base-case analysis, LYs for pts were 64.3–72.6 years, depending on genotype, representing an estimated 6- to 14-year reduction vs the US average of 78.4 years. QALYs were 32.1–34.5, reflecting reduced quality of life after LOA. Cardiomyopathy and respiratory insufficiency were primary drivers of mortality. Lifetime medical costs were substantial, with an estimated $2.81–$3.25 million per pt; pts with heterozygous/other FKRP variants incurred the highest costs due to earlier LOA. In sensitivity analyses, LYs were most influenced by cardiomyopathy-related mortality, and QALYs by ambulatory utilities. Scenario analyses using EQ-VAS vs EQ-5D utilities produced slightly higher QALYs. LGMD2I/R9 is associated with reduced LYs and QALYs, driven by cardiomyopathy and LOA, respectively, with burden varying by genotype. Results align with patterns in other muscular dystrophies, supporting model assumptions and highlighting the relative disease burden of LGMD2I/R9.

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