Facioscapulohumeral Muscular Dystrophy (FSHD) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

P.142 Improving FSHD RNAi gene therapy using myotropic MyoAAVs
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder affecting more than 870,000 people worldwide. FSHD is caused by de-repression of the toxic DUX4 gene in skeletal muscle. There are currently no approved treatments for FSHD, but several promising DUX4-inhibition therapies are under development. Previously, our lab published pre-clinical efficacy and safety studies for a DUX4-targeted RNAi-based gene therapy using an artificial microRNA called mi405. In unpublished data, we performed dose-finding studies in FSHD animal models, demonstrated inhibition of human DUX4-associated biomarker...
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: L. Wallace, T. Riley, M. Guggenbiller, G. Amini Chermahini, S. Harper Source Type: research

P.141 Manoeuvre study design: A study of GYM329 (RO7204239) in patients with facioscapulohumeral muscular dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder characterized by asymmetric skeletal muscle weakness and muscle atrophy. Time of first symptom onset is variable, from childhood to adulthood, but typically manifests in the second or third decade of life. There is no approved therapy for FSHD; thus, there is a high unmet medical need as the disease can cause significant morbidity and reduce the quality of life of affected patients. GYM329 (RO7204239) is an investigational, recycling and antigen-sweeping monoclonal anti-myostatin antibody. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: J. Vissing, K. Eichinger, J. Morrow, J. Statland, G. Tasca, A. Dodman, B. Jaber, H. Kletzl, T. McIver, R. Scalco, W. Yeung, E. Gaki, K. Wagner Source Type: research

P.140 Understanding the patients' journey pre- and post-diagnosis of facioscapulohumeral muscular dystrophy (FSHD): A real-world retrospective data analysis
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. To describe the changes in outcomes (healthcare conditions/services/costs/care days) we analyzed deidentified-US-claims Jan-2015-Mar-2021 for patients with FSHD vs non-FSHD matched controls (MCs). FSHD had ≥2 claims [ICD-10=G71.02] ≥30 days apart (N=79) and were matched to 5 MCs (N=395). Changes were compared 2-years post-diagnosis minus 2-years pre-diagnosis (Post-PreDx) using US agency for healthcare research& quality (AHRQ) cat...
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: C. Konersman, K. Munoz, R. Brook, N. Kleinman, K. DiTrapani, B. McEvoy, A. Peters, C. Chen, M. Stahl Source Type: research

P.139 A cross sectional study of genetically confirmed cohort of facioscapulohumeral muscular dystrophy (FSHD) in the Indian population
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common autosomal dominant muscular dystrophy in adults worldwide. FSHD in India has always been a clinical diagnosis as there are no facilities for diagnostic testing in India, either in the private or public sector. Currently, patients send their blood samples to diagnostic or research labs in Europe or North America to get a diagnostic or research report, respectively. The study was conducted at the AIIMS comprehensive neuromuscular disorders (AIIMS-CNMD) centre, one of the partner centres of the international centre for genomic medicine in neuromuscular di...
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: V. Vishnu, R. Lemmers, E. Bugiardini, A. Reyaz, S. Efthymiou, S. van der Maarel, R. Bhatia, R. Pitceathly, P. Srivastava, M. Hanna Source Type: research

P.138 Annualized rates of change from a phase 2, randomized, double-blind, placebo-controlled, 48-week study of losmapimod in subjects with FSHD: ReDUX4
Evaluate annualized clinical outcome changes in subjects with facioscapulohumeral muscular dystrophy (FSHD) treated with losmapimod compared with placebo. FSHD is a relentless, variably progressive disease leading to accumulation of disability over decades. Fulcrum is developing losmapimod, a small molecule p38 α/β MAPK inhibitor, to treat FSHD. An annualized analysis provides data on the slope of disease progression and the potential for treatment with losmapimod to change that slope over time. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: R. Tawil, x. ReDUX4 Study Group Source Type: research

FP.29 AAV-CRISPR-Cas13 gene therapy for FSHD: DUX4 gene silencing efficacy and immune responses to Cas13b protein
Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies, ranging from 1 in 8,333 to 1 in 20,000. Currently no treatment exists that alters the course of FSHD, and therapy development remains an unmet need in the field. Abnormal reactivation of the DUX4 gene in skeletal muscle has emerged as an underlying cause of muscle weakness and wasting in FSHD. We propose that DUX4 silencing is the most direct route to FSHD therapy. Toward this goal, we developed an AAV6-CRISPR-Cas13 strategy to silence DUX4 mRNA. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: A. Rashnonejad, G. Amini-Chermahini, N. Taylor, A. Fowler, E. Kraus, O. King, S. Harper Tags: FSHD Source Type: research

P.15 Symptomatic DMD carrier as a differential diagnosis in patients presenting asymmetrical limb weakness
We report two cases of symptomatic DMD carriers presenting with asymmetrical limb weakness. A 50-year-old woman visited the department of neurology presenting with slowly progressive weakness of the limbs since childhood. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: M. Cho, Y. Lee, A. Kim, J. Lee Source Type: research

Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients
Cell Death & Disease, Published online: 16 September 2022; doi:10.1038/s41419-022-05233-6Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients (Source: Cell death and disease)
Source: Cell death and disease - September 16, 2022 Category: Internal Medicine Authors: Lorena Di Pietro Flavia Giacalone Elvira Ragozzino Valentina Saccone Federica Tiberio Marco De Bardi Mario Picozza Giovanna Borsellino Wanda Lattanzi Enrico Guadagni Sara Bortolani Giorgio Tasca Enzo Ricci Ornella Parolini Source Type: research

Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation
We report the OCTA findings before and aft er antivascular endothelial growth factor treatment in a patient with FSHD.Case Rep Ophthalmol 2022;13:556 –561 (Source: Case Reports in Ophthalmology)
Source: Case Reports in Ophthalmology - July 14, 2022 Category: Opthalmology Source Type: research

Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy
CONCLUSIONS: A multidisciplinary, personalized approach, focusing on coping with physical, emotional, and social consequences of FSHD is supposed to be helpful. Further research is needed to assess the psychosocial outcomes of facial weakness in younger patients.Implications for rehabilitationResearch on the psychosocial consequences of facial weakness in facioscapulohumeral muscular dystrophy (FSHD) is limited.Patients with FSHD experience mild to moderate psychosocial distress, partly due to overall disease severity, such as reduced mobility, and partly due to facial weakness and reduced facial function.Self-reported deg...
Source: Disability and Rehabilitation - July 11, 2022 Category: Rehabilitation Authors: W A van de Geest-Buit N B Rasing K Mul J C W Deenen S C C Vincenten I Siemann A Lanser J T Groothuis B G van Engelen J A E Custers N C Voermans Source Type: research

Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy
CONCLUSIONS: A multidisciplinary, personalized approach, focusing on coping with physical, emotional, and social consequences of FSHD is supposed to be helpful. Further research is needed to assess the psychosocial outcomes of facial weakness in younger patients.Implications for rehabilitationResearch on the psychosocial consequences of facial weakness in facioscapulohumeral muscular dystrophy (FSHD) is limited.Patients with FSHD experience mild to moderate psychosocial distress, partly due to overall disease severity, such as reduced mobility, and partly due to facial weakness and reduced facial function.Self-reported deg...
Source: Pain Physician - July 11, 2022 Category: Anesthesiology Authors: W A van de Geest-Buit N B Rasing K Mul J C W Deenen S C C Vincenten I Siemann A Lanser J T Groothuis B G van Engelen J A E Custers N C Voermans Source Type: research