好色先生

好色先生

Explore the latest content from across our publications

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Understanding the patients’ journey to the diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD): a real-world retrospective data analysis
Neuromuscular and Clinical Neurophysiology (EMG)
P14 - Poster Session 14 (11:45 AM-12:45 PM)
11-006

Describe the Facioscapulohumeral Muscular Dystrophy (FSHD) patient journey vs matched controls (MCs) one-year 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 patients’ pre-diagnosis journey is limited.

We used US PharMetrics adjudicated claims (2015-2020) to compare the prevalence of healthcare conditions and services used by FSHD patients (ICD-10 G71.02) vs non-FSHD MCs. The FSHD cohort had ≥2 FSHD claims ≥30 days apart; index date being initial diagnosis date (FSHD). Controls were matched (5-MC:1-FSHD) on month of index date (matching enrollment month), age, region, gender, plan and payer types. Healthcare conditions and services used were compared during the year before diagnosis using the US Agency for Healthcare Research & Quality (AHRQ) categories.

We identified 290 FSHD patients and 1450 MCs. The following differences were significant (p<0.05): FSHD patients had more Charlson comorbidity index scores ≥1 than MCs (18.6% vs 11.7%). Overall, the prevalence of conditions and use of services were higher in FSHD patients vs. MCs. The largest differences in condition prevalence were “other nervous system disorders” (74% vs 12%), “other connective tissue disease” (49% vs 21%), “malaise and fatigue” (25% vs 8%) and “spondylosis, intervertebral disc disorders, other back problems” (36% vs 20%). Mean number of services used were consistent with findings that FSHD has a greater burden prior to diagnosis.

One year before diagnosis, FSHD patients had more healthcare conditions and used more services than MCs in many categories. This supports the hypothesis that FSHD diagnoses are often delayed, and the diagnostic journey contributes to the burden of patients and society.
Authors/Disclosures

PRESENTER
No disclosure on file
Chamindra G. Laverty, MD (UC San Diego) The institution of Dr. Laverty has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta . Dr. Laverty has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Laverty has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Catalyst. Dr. Laverty has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Solid Biosciences. Dr. Laverty has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. The institution of Dr. Laverty has received research support from Sarepta. The institution of Dr. Laverty has received research support from Novartis Gene Therapies. The institution of Dr. Laverty has received research support from Italfarmaco. The institution of Dr. Laverty has received research support from Fibrogen. The institution of Dr. Laverty has received research support from Avidity. The institution of Dr. Laverty has received research support from Dyne.
No disclosure on file
No disclosure on file
Kelly Ditrapani (Avidity Biosciences) Kelly Ditrapani has received personal compensation for serving as an employee of Avidity Biosciences. Kelly Ditrapani has received personal compensation for serving as an employee of Iovance Biotherapeutics. An immediate family member of Kelly Ditrapani has received personal compensation for serving as an employee of Jazz Pharmaceuticals. Kelly Ditrapani has stock in Iovance Biotherapeutics. Kelly Ditrapani has stock in Avidity Biosciences. Kelly Ditrapani has stock in Aravive Inc.. An immediate family member of Kelly Ditrapani has stock in Jazz Pharmaceuticals. Kelly Ditrapani has stock in Abbvie.
Bradley W. McEvoy Bradley W. McEvoy has received personal compensation for serving as an employee of Acadia Pharmaceuticals. Bradley W. McEvoy has received stock or an ownership interest from Acadia Pharmaceuticals.
No disclosure on file
No disclosure on file
No disclosure on file
Mark C. Stahl, MD, PhD (Insmed Gene Therapies) Dr. Stahl has received personal compensation for serving as an employee of Avidity Biosciences. Dr. Stahl has stock in Avidity Biosciences.