Understanding the patients’ journey pre- and post-diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD): a real-world retrospective data analysis



Poster Number: 100


Chamindra Konersman, UCSD, Kathryn Munoz, Avidity Biosciences, Inc., Richard Brook, Better Health Worldwide, Inc, Nathan Kleinman, Better Health Worldwide, Kelly DiTrapani, Avidity Biosciences, Inc., Brad McEvoy, Avidity Biosciences, Alissa Peters, Avidity Biosciences, Inc., Trista Hardin, Avidity Biosciences, Chao-Yin Chen, Avidity Biosciences, Mark Stahl, Avidity Biosciences, Inc.

Describe changes in outcomes (healthcare conditions, services, costs, and care days) in FSHD patients vs matched controls (MCs) two-years post versus pre diagnosis.

FSHD is a rare, slowly progressive, genetic skeletal muscle disease. Muscle weakness usually first appears in the face and upper extremities, eventually extending to the trunk and lower body. Patients experience significant physical limitations, pain, fatigue, and an overall negative impact on well-being. Real-world data characterizing the FSHD-patient journey post-pre diagnosis is limited.

We conducted a retrospective analysis of FSHD patients (?2 FSHD claims [ICD-10=G71.02] ?30 days apart) vs non-FSHD MCs using PharMetrics deidentified-claims (Jan-2015-Mar-2021). Cohorts were matched (5-MC:1-FSHD) on index date, age, region, gender, plan, and payer types. Changes were compared two-years post-diagnosis minus two-years pre-diagnosis (Post-PreDx) using US Agency for Healthcare Research & Quality (AHRQ) categories. Data reported is per-member-per-year and significant (p<0.05) unless noted.

We identified 79 FSHD patients and 395 MCs. Overall, per-member-per-year Post-PreDx care days increased (?6 FSHD) and increased more than MCs. FSHD-patients’ Post-PreDx medical-costs (?$5,646) and ED care (?16.5%); primarily related to lung-conditions. FSHD-patients’ prevalence increased post-diagnosis more than MCs in AHRQ-categories; including “immunizations” (?21.5% FSHD;?6.1% MCs) and “other gastrointestinal disorders” (?13.9% FSHD). FSHD-patients' costs changed Post-PreDx in “other lower respiratory disease” (?153), “Immunizations” (?24), “malaise and fatigue” (?30), “headache/migraine” (?$46), and p>0.05 “other connective tissue disease” (?$1,477),“respiratory failure/insufficiency/arrest”(?$1,169), and “cardiac dysrhythmias” (?$969). FSHD-patients’ costs decreased post-diagnosis more than MCs for “headache/migraine” ($38),“menstrual disorders” ($13),and “abdominal hernia” ($249). FSHD-patients’ services increased Post-PreDx in “other lower respiratory disease” (?1.15) and “urinary-tract infections” (?0.38). FSHD-patients’ services Post-PreDx increased more than MCs for “diverticulosis/diverticulitis” and “malaise/fatigue”.

Post-diagnosis, FSHD patients’ health care utilization increased overall. Clinicians may seek to better understand and address the various systems that contribute to the burden of FSHD post-diagnosis.