OBJECTIVES:

To model the prevalence of Facioscapulohumeral muscular dystrophy (FSHD) and characterize disease burden in the US. FSHD is a rare, progressive, and disabling neuromuscular disorder with no approved treatments. The prevalence of FSHD is poorly understood with estimates varying from 16,000 – 38,000 patients in the United States (US).

METHODS:

An FSHD cohort was identified within the IPM.ai claims database, defined by ≥2 ICD-10-CM code G71.02 between October 1, 2018, to July 21, 2021. To estimate prevalence a predictive model was developed utilizing the identified cohort and applying a proprietary machine learning (ML) algorithm; the total modeled patients (known + predicted) were age and gender-matched with a random control cohort (5:1). Claims data was used to compare for comorbidities and health care resource utilization (HCRU) between the two cohorts.

RESULTS:

Of the ~300M lives captured in the database, 2,919 FSHD patients were identified, with the model estimating 24,877 – 34,007 patients in the US. A subset of 1,275 known and 16,593 of predicted patients were matched to controls. Over 85% of FSHD patients have some form of musculoskeletal pain vs. 55% of controls. Over 65% of FSHD patients experience mobility related complications (e.g., gait abnormalities, footdrops, and falls) vs 12% in controls. 80% of FSHD patients experience some form respiratory disorders and 70% experience weakness. Over 55% have psychological disturbances such as depression and anxiety. These conditions occurred at ~80% higher rate in FSHD versus controls.

CONCLUSIONS:

Estimated US prevalence of FSHD through claims analysis and predictive ML modeling triangulates with the range estimated in literature. Due to the recent introduction of the FSHD specific ICD-10 code, number of diagnosed patients captured in claims is likely to increase as the ICD-10 code is used more. Increased comorbidity rates suggest FSHD is associated with significantly lower quality of life and higher HCRU vs. controls.