Results from a National Cross-Sectional Study of Disease-Burden in Facioscapulohumeral Muscular Dystrophy (FSHD) (S15.004)

Abstract

Objective: To assess: 1) The most critical symptoms and disease manifestations in FSHD patients; and, 2) The modifying factors that are associated with these symptoms. Background FSHD is a dominantly inherited multisystem disease capable of impairing the physical, mental, and social health of patients. The identification of the symptoms and disease manifestations that are most significant to patients9 health and the relationship between the severity of these manifestations and other patient characteristics are currently lacking. These data are necessary to develop valid disease-specific patient-reported outcome measures for use in future FSHD clinical trials. Design/Methods: A cross-sectional study of 328 genetically or clinically confirmed adult FSHD patients from the National Registry of FSHD patients between September and December 2010. The prevalence and relative impact score of 250 critical symptoms and 15 disease themes previously identified through FSHD qualitative interviews were assessed. Responses were categorized by age, gender, education level, and duration of symptoms. Results: FSHD participants from 46 states provided over 48,000 symptom rating responses to address the relative frequency and importance of each FSHD symptom. Problems with shoulders or arms (96.9%), inability to do activities (94.7%), fatigue (93.8%), back, chest, or abdomen weakness (93.8%), and limitations with mobility or walking (93.6%) were the symptomatic themes with the highest frequency in FSHD. Participants identified problems with shoulders or arms and limitations with mobility or walking as the symptomatic themes with the greatest impact on their lives. Significant associations were found between demographic data and the prevalence and relative impact of specific FSHD symptoms on patients9 lives. Conclusions: In this national cross-sectional study patients with FSHD identified the symptoms of highest frequency and greatest impact. These symptoms, some under-recognized, vary based on patient age, gender, and duration of symptoms. Fortunately many, perhaps all symptoms, may be amenable to future therapeutic intervention. Supported by: The National Institute of Arthritis and Musculoskeletal and Skin Disorders (1K23AR055947), the NIH supported Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (U54NS48843-01), the Muscular Dystrophy Association, and the University of Rochester Clinical Translational Science Institute. Disclosure: Dr. Heatwole has nothing to disclose. Dr. Bode has nothing to disclose. Dr. Martens has nothing to disclose. Dr. McDermott has received personal compensation for activities with Teva Neuroscience, Smith and Nephew, Inc., Synosia, Inc., and Impax Pharmaceuticals. Dr. McDermott has received research support from Medivation, Inc., NeuroSearch Sweden AB, Boehringer Ingelheim Pharmaceuticals, Inc., and Pfizer Inc. Dr. Moxley has nothing to disclose. Dr. Quinn has nothing to disclose. Dr. Tawil has nothing to disclose. Dr. Rothrock has nothing to disclose. Dr. Vickrey has received personal compensation for activities with EMD Serono. Dr. Victorson has nothing to disclose. Dr. Johnson has nothing to disclose.