Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE)

Condition:   Facioscapulohumeral Muscular Dystrophy (FSHD) Intervention:   Drug: Losmapimod Sponsor:   Fulcrum Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility of a genome-wide CRISPR-Cas9 loss-of-function library to identify therapeutic targets for facioscapulohumeral muscular dystrophy (FSHD), a genetically complex type of muscular dystrophy for which there is currently no treatment. In FSHD, both genetic and epigenetic changes lead to misexpression of DUX4, the FSHD causal gene that encodes the highly cytotoxic DUX4 protein. We pe...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant skeletal muscle disease with an estimated prevalence of 12/100,000 [1] for which there is currently no cure. The condition is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite region at chromosome 4q35, alongside a permissive 4qA haplotype in cis encoding a polyadenylation signal [2]. Epigenetic deregulation occurs either via truncation of the D4Z4 region to between 1-10 repeats (FSHD1) [3] or by mutation in chromatin remodelling genes (FSHD2), mainly SMCHD1 [4], with DNMT3B [5] also recently identified.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Tupler Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD mechanism and has been proposed as a reliable marker in the FSHD diagnostic procedure. We considered the assessment of D4Z4 DNA methylation status conducted on distinct cohorts using different methodologies. On the basis of the reported results we conclude that the percentage of DNA methylation detected at D4Z4 does not correlate with the disease status. Overall, data suggest th...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Rationale: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, which is associated with facial, shoulder girdle, and paraspinal muscle atrophy. Most of the patients develop hypokyphosis and hyperlordosis in the course of the disease, to preserve standing posture. Corrective fusion is contraindicated in these patients as the surgery results with loss of compensatory hyperlordosis and leads to loss of trunk balance while standing. Although spinal fusion in neuromuscular scoliosis is a known treatment option, there are no studies in the literature on the spinal fusion of this specific ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
CAMBRIDGE, Mass., Jan. 29, 2020 (GLOBE NEWSWIRE) -- Fulcrum Therapeutics, Inc. (Nasdaq: FULC), a clinical-stage biopharmaceutical company focused on improving the lives of patients with genetically defined rare diseases, today...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research
PMID: 31853834 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
PMID: 31853833 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
More News: Facioscapulohumeral Muscular Dystrophy (FSHD) | Muscular Dystrophy | Reflex Sympathetic Dystrophy | Research