Muscular Dystrophy Cell Lines

Unmet Need
Facioscapulohumeral muscular dystrophy (FSHD) is a complex neuromuscular disorder affecting 1 in 20,000 individuals. The disease is characterized by progressive wasting of facial, upper arm and shoulder girdle muscles. FSHD has variable age of onset, ranging from infant to late adult; and approximately one-third of patients lose the ability to ambulate. Approximately 95% of FSHD cases are linked to an abnormally shortened D4Z4 repeat array near the chromosome 4q telomere, and studies suggest that this results in the stabilization and aberrant transcription of a full-length form of DUX4 mRNA (DUX4-fl). Still, FSHD remains poorly understood and presents a major unmet clinical need with currently no cure or effective therapy options for patients. Furthermore, a critical issue faced by researchers is the lack of a cellular model of FSHD.
 
Technology Overview
Johns Hopkins researchers have generated a novel library of myogenic cell cultures composed of paired cultures derived from FSHD patients and unaffected first-degree relatives. Donors included individuals with FSHD that had shortened 4q D4Z4 repeat arrays (4-8 repeats) and their relatives, who were unaffected by FSHD and had unshortened 4q D4Z4 arrays. Specifically, muscle was obtained from biceps and deltoid muscle, wherein primary myoblasts were purified by CD56 expression and then subsequently immortalized. This technology provides a means to examine potential pathogenic mechanisms and therapeutic strategies.
 
Stage of Development
Pre-clinical, tangible material. The technology is at the preclinical stage. The inventors have demonstrated the efficacy of their disease-specific (FSHD) cells in evaluating antisense technology as a potential therapeutic option.
 
Publications
Chen JCJ, et all Mol Ther 24(8), 1405-1411
 

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