Real-World Insights Into Limb-Girdle Muscular Dystrophy, Including Subtype 2I/R9: Treatment Patterns, Health Care Resource Utilization, and Costs


Topic:

Other

Poster Number: 324 T

Author(s):

Karen Bartley, PhD, MPH, BridgeBio Pharma, Inc., Amanda Howarth, MPH, Genesis Research Group, Siwei Zhu, MS, MSCP, RDN, Genesis Research Group, Fei Tang, PhD, MPH, Genesis Research Group, Anna Talaga, PhD, BridgeBio, Jeffrey Statland, MD, University of Kansas Medical Center, Kansas City, Kansas, USA

Background: Limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) is a rare neuromuscular disorder caused by FKRP variants impairing α-dystroglycan glycosylation. From 10/2022-10/2025, ICD-10-CM code G71.038 (“other LGMD”) was used in administrative claims to identify patients (pts) with LGMD2I/R9 and related autosomal recessive subtypes. Few studies report healthcare resource utilization (HCRU); none report costs, indicating a literature gap. This study describes the clinical and economic burden of pts identified by code G71.038 vs matched controls. Methods: This retrospective study used Optum Market Clarity® electronic health records (EHR)/administrative claims data. Pts had ≥2 records in EHR and/or claims with ICD-10-CM code G71.038 on separate days 10/1/2022-9/30/2024 (index date=first record). Outcomes (demographic/clinical characteristics, treatment patterns, HCRU, and medical costs) were evaluated before/after index. A 10:1 control cohort was matched on age, sex, index month/year, geographic region, and payer. Results: Of the 521 pts with other LGMD, 375 were eligible for HCRU/cost analyses (median follow-up 10.6 months); the matched cohort included 5210 in the full cohort, 4093 in the HCRU cohort. Mean age was 53.6 years; 68.5% were female. During follow-up, cardiac (29.0%) and pulmonary (39.2%) involvement exceeded that in controls (16.5% and 21.9%). In the 6 months before/after index, 26.5% of LGMD pts were nonambulatory/had assisted ambulation, 15.0% had ventilation support, and 3.8% had ventilation dependence. During follow-up, 40.3% received corticosteroids and 30.1% heart failure medications, (controls 19.6% and 25.8%, respectively). In the HCRU cohort, 13.3% had ≥1 inpatient (IP) stay, 29.6% ≥1 emergency department (ED) visit, and 98.4% ≥1 outpatient visit, compared with 6.6%, 16.4%, and 95.7% of controls. IP and ED rates were higher for nonambulatory/assisted ambulation pts (IP 27.0%; ED 48.0%) vs ambulatory pts (IP 8.4%; ED 22.9 %). Total medical costs per pt per year were substantially higher vs controls ($41,200 vs $13,919); costs were higher for assisted ambulation ($48,417) and nonambulatory ($125,727) pts vs ambulatory pts ($33,995). Conclusions: Findings show considerable clinical burden and high HCRU and costs for pts with LGMD2I/R9 and related subtypes, with consistently higher comorbidity and medical costs than matched controls. The new ICD-10-CM code for LGMD2I/R9 will enhance research and characterization of this pt population.