Myodys (TG 5001) / Transgene, Arrowhead - LARVOL DELTA

Characterization of rAAV Genomic Integrity by Long-Read Sequencing of AAV9-MyoDys45-55, a Gene Editing Therapy for Duchenne Muscular Dystrophy (ASGCT 2024) - "This work allows us to assess how well the therapy is being packaged into the carrier, if there are any missing pieces, and if there is any contamination. These learnings are critical to enhance our understanding of the packaging and delivery of this gene editing therapy for Duchenne, which offers revolutionary potential for treating this devastating disease."

Becker Muscular Dystrophy • Duchenne Muscular Dystrophy • Genetic Disorders • Muscular Dystrophy

Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan. (PubMed, Arch Razi Inst) - "According to the results of the NGS, point mutations were identified in six boys (four single-nucleotide deletions and two single-nucleotide duplications), and five boys lacked mutations. Due to the high proportion of neuro-hereditary diseases in the general structure of neurological pathology, the profound disability of patients with progressive mental and physical disadaptation, as well as the generally fatal course of these incurable afflictions, molecular genetics research is of particular importance."

Journal • CNS Disorders • Duchenne Muscular Dystrophy • Genetic Disorders • Muscular Dystrophy

Non-ischemic priapism (post-traumatic arteriovenous fistula of the right cavernous body) in the background of Landusy-Dejerine myopathy (PubMed, Urologiia) - "The article presents a clinical observation of non-ischemic priapism, which developed as a result of perineal trauma with the formation of a fistula of the right cavernous body in a patient against the background of facial shoulder-shoulder myodystrophy. Methods for the differential diagnosis of this condition are also discussed."

Journal • Cardiovascular • Muscular Dystrophy • Myositis

Results of a genetic study of children with Duchenne myodystrophy in Kazakhstan. (PubMed, J Neurosci Rural Pract) - No abstract available

Journal • Muscular Dystrophy

Preclinical Development of MyoDys45-55, a Gene Editing Therapy for Duchenne Muscular Dystrophy (ASGCT 2023) - "Here we describe preclinical studies assessing the efficacy, biodistribution, safety, and immune response to AAV-MyoDys45-55 in vivo. This work will advance development of this potential therapeutic for Duchenne that can permanently restore the reading frame for a large proportion of patients."

Preclinical • Becker Muscular Dystrophy • Duchenne Muscular Dystrophy • Genetic Disorders • Muscular Dystrophy

Clinical outcomes of continuous flow left ventricular assist device therapy as bridge to transplant strategy in muscular dystrophy: a single-center study. (PubMed, Gen Thorac Cardiovasc Surg) - "In selected MD patients with end-stage HF, cf-LVAD therapy is a viable therapeutic option as bridge to heart transplant."

Clinical data • Journal • Cardiovascular • Congestive Heart Failure • Heart Failure • Infectious Disease • Muscular Dystrophy • Pulmonary Disease • Respiratory Diseases • Transplantation • Ventricular Tachycardia

The Phosphonate Derivative of C Fullerene Induces Differentiation towards the Myogenic Lineage in Human Adipose-Derived Mesenchymal Stem Cells. (PubMed, Int J Mol Sci) - "Inductors of myogenic stem cell differentiation attract attention, as they can be used to treat myodystrophies and post-traumatic injuries...The stimulation of autophagy may be one of the factors contributing to the increased expression of myogenic differentiation genes in MSCs. Autophagy may be caused by intracellular alkalosis and/or short-term intracellular oxidative stress."

Journal • Metabolic Disorders • Muscular Dystrophy • FABP4 • Myogenin • SPP1

FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach. (PubMed, Diagnostics (Basel)) - "Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy...The results suggest the applicability of the qPCR-based approach for FSHD1 diagnosis and its robustness in a basic molecular genetics laboratory. To our knowledge, this is the first study of FSHD1 permissive allele distribution in a Russian population."

Clinical • Journal • Muscular Dystrophy

A FAMILY HISTORY OF DUCHENNE MUSCULAR DYSTROPHY. (PubMed, Georgian Med News) - "A complete examination fragment of 42 patients with myodystrophies is presented...However, the onset age of the disease, the clinical course, and the changes in the CPK level were different. Due to the muscle ultrasound both patients were detected to have degenerative changes in the proximal upper and lower limbs."

Journal • Duchenne Muscular Dystrophy • Genetic Disorders • Immunology • Muscular Dystrophy • Myositis

Carotid webs management in symptomatic patients. (PubMed, J Vasc Surg) - "Symptomatic AFMD is a rare cause of cryptogenic stroke. Bilateral lesions are frequent. Early intervention is associated with favorable peri operative and one-year outcomes. Open surgery is the first line therapeutic option in this young patient population."

Clinical • Journal • Cardiovascular

Isoform-Specific Na,K-ATPase and Membrane Cholesterol Remodeling in the Motor Endplates in Distinct Mouse Models of Myodystrophy. (PubMed, Am J Physiol Cell Physiol) - "Soleus muscles from mdx and Bla/J mice demonstrated difference in the pattern of the α2 Na,K-ATPase and cholesterol abnormalities compared to diaphragm muscles. Our findings indicate that these distinct mouse models of myodystrophy are characterized by α2 Na,K-ATPase and membrane cholesterol impairments, which can be a result of adaptive skeletal muscle remodeling under chronic motor dysfunction."

Journal • Preclinical • Duchenne Muscular Dystrophy • Gene Therapies • Genetic Disorders • Muscular Dystrophy

[VIRTUAL] Elucidating myopathies with high creatine-kinase- from unsolved cases to common diagnosis (ESHG 2020) - "DMD was diagnosed in 13M, with hemizygous variants in DMD gene (using MPLA) with following exons deletion: 10-11;13-17;22-41;39-43;46-53;51;58,exon 3-7 duplication and variants (using NGS): c.7174dupG; c.8608C>T; c.8688_8689delAG; c.10738delG. Conclusions. This study shows a diagnostic yield of almost 80% and lists the variants associated with myodystrophies, underling the limitation in establishing the diagnosis in patients with increased CK levels."

Clinical • Becker Muscular Dystrophy • Muscular Dystrophy • Myositis • Pompe Disease

[VIRTUAL] Diagnostic of facioscapulohumeral muscular dystrophy in Russian patients based on newly developed qPCR approach (ESHG 2020) - "Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent congenital myodystrophies... In this work we present newly developed FSHD diagnostics approach based on qPCR and first study of the FSHD genotyping in Russian patients. We observed enrichment of the permissive alleles in the range of 3-6 D4Z4 units among affected individuals, whereas among carriers permissive alleles were enriched in the range 6-8 D4Z4 units."

Clinical • Muscular Dystrophy

[VIRTUAL] INCREASED HSP90 IN MUSCLE TISSUE AND PLASMA ASSOCIATES WITH DISEASE ACTIVITY AND SKELETAL MUSCLE INVOLVEMENT IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES (EULAR 2020) - "Muscle biopsy samples (PM, DM, IMNM, myodystrophy, myasthenia gravis) were stained for Hsp90α (Thermo Fisher Scientific, USA) and Hsp90β (Abcam, UK)... We demonstrate increased Hsp90 expression in IIM muscle biopsy samples, specifically in inflammatory cells, degenerating, regenerating and/or necrotic fibers. Increased Hsp90 plasma levels in IIM patients are associated with disease activity and damage, and with the involvement of proximal skeletal muscles, heart and lungs."

Clinical • CNS Disorders • Complement-mediated Rare Disorders • Immunology • Myasthenia Gravis • Myositis • HSP90AA1

Genotype-phenotype correlations in FSHD. (PubMed, BMC Med Genomics) - "Key pathogenesis factors have been identified for FSHD. However, the pronounced intra - and inter-family polymorphism of manifestations indicates a large number of modifiers of the pathological process, many of which remain unknown."

Journal • Review

Increased Heat Shock Protein 90 in Muscle Tissue and Plasma in Idiopathic Inflammatory Myopathies Correlates with Disease Activity and Skeletal Muscle Involvement (ACR-ARHP 2016) - "Methods: Total of 277 patients with IIM (198 females, 79 males; mean age 54.8; disease duration 4.1 years; dermatomyositis (DM, 104)/polymyositis (PM, 104)/cancer associated myositis (CAM, 42)/ necrotizing myopathy (IMNM, 27)) and 100 age-/sex-matched healthy individuals were included in plasma analysis and 50 muscle biopsy samples were stained for Hsp90 (PM-10, DM-10, IMNM-10, myodystrophy-10, myasthenia gravis-10). Increased Hsp90 plasma levels in IIM patients are associated with disease activity and damage, and with the involvement of proximal skeletal muscles, heart and lungs. Acknowledgement: Supported by AZV-16-33542A."

Clinical • Biosimilar • Complement-mediated Rare Disorders • Immunology • Myasthenia Gravis • Myositis • Oncology • Systemic Sclerosis

Congenital flexural deformity in 93 calves - appearance, treatment techniques and results of pedigree analysis (PubMed, Schweiz Arch Tierheilkd) - "Depending on the severity of CFT and the presence of other concurrent diseases, an early and consistent therapy has to be carried out to achieve the highest possible success. Since animals with CFT are usually restricted in their movement, sufficient colostrum intake must be ensured within the first hours of life."

Journal

Development of a transendothelial shuttle by macrophage modification. (PubMed, J Tissue Eng Regen Med) - "One of the limiting factors in tissue regeneration, particularly in the context of chronic disease such as myodystrophy, motor neuron disease, sarcopenia, and cardiovascular disease, is limited availability of stem cells...Primary human M1 macrophages were treated with a wortmannin-concanamycin A-chloroquine cocktail to induce arrest...We conclude that macrophages were successfully modified into transendothelial delivery vehicles, without compromising required functionality. This delivery system can be exploited to develop a novel method for focussed stem cell and/or drug delivery."

Journal

Increased Hsp90 in Plasma and Muscle Tissue Associates with Disease Activity and Skeletal Muscle Involvement in Idiopathic Inflammatory Myopathies (ACR-ARHP 2019) - "Muscle biopsy samples (PM, DM, IMNM, myodystrophy, myasthenia gravis) were stained for Hsp90α (Thermo Fisher Scientific, USA) and Hsp90β (Abcam, UK)... We demonstrate increased Hsp90 expression in IIM muscle biopsy samples, specifically in inflammatory cells, degenerating, regenerating and/or necrotic fibers. Increased Hsp90 plasma levels in IIM patients are associated with disease activity and damage, and with the involvement of proximal skeletal muscles, heart and lungs."