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A patent has been issued for oligonucleotides conjugated to oleic acid by inventors from Universitat De Valencia, Spain. The patent focuses on addressing Myotonic Dystrophy Type 1 (DM1), a rare genetic disease with no effective treatment, by targeting MBNL1 and MBNL2 proteins. The invention aims to increase the stability and potency of antimiRs through conjugation with oleic acid, potentially improving therapeutic outcomes for DM1 patients. [Extracted from the article]

A recent study from the Research Center for Medical Genetics focused on gene therapy for Duchenne muscular dystrophy, a common inherited muscular dystrophy caused by mutations in the DMD gene. The study explored various therapeutic approaches, including etiotropic approaches aimed at restoring the function of the dystrophin protein. Promising developments in genome editing have allowed for permanent correction of the genetic cause of the disease, with some drugs already approved and others in clinical trials. For more information, the full article can be accessed for free at the provided link. [Extracted from the article]

A recent study conducted by researchers at Siberian State Medical University focused on Duchenne muscular dystrophy, a severe genetic disease caused by mutations in the dystrophin gene. The study highlighted the importance of early diagnosis and pathogenetic therapy in improving the quality of life and prolonging the lifespan of patients with this condition. The research emphasized the need for early intervention even before clinical symptoms manifest, showcasing positive outcomes in treating patients with Duchenne muscular dystrophy. [Extracted from the article]

Researchers at the Research Center for Medical Genetics have conducted a study on muscular dystrophy, specifically focusing on the DMD gene in women. The study highlights the varying degrees of symptom expression in carrier women with pathogenic variants in the DMD gene and emphasizes the importance of mutation screening in women presenting with muscular dystrophy symptoms. The research provides valuable insights into dystrophinopathies in women and suggests investigating carrier status in relatives of patients with Duchenne/Becker muscular dystrophy. [Extracted from the article]

A recent study conducted at the Texas College of Osteopathic Medicine focused on Duchenne Muscular Dystrophy (DMD) and the potential coexistence of secondary neuromuscular disorders in patients with DMD. The research highlighted the importance of identifying these secondary disorders, as they could impact treatment plans and clinical trial outcomes. The study recommended expanded genetic testing to uncover additional secondary disorders in DMD patients, emphasizing the need for thorough evaluation before enrolling in clinical trials or planning treatments. [Extracted from the article]

A recent study published in Science Advances highlights a potential therapy for myotonic dystrophy type 1 (DM1) using antimiRs to block microRNAs and increase the expression of the essential protein MBNL1. The research, conducted by a team of researchers from various institutions, demonstrated promising results in muscle cell lines derived from DM1 patients, showing improved muscle cell functions and reduced disease-causing molecules. This therapy offers hope for DM1 patients, as current treatments for this rare genetic disease are limited, affecting approximately 1 in 8,000 people and causing a range of debilitating symptoms affecting multiple systems and organs. [Extracted from the article]

The article discusses the role of SUMOylation in regulating the SMCHD1 complex formation and function in a genomic context-specific manner. SMCHD1 is a chromatin repressor that plays a role in gene expression and chromatin architecture. The study highlights the impact of SUMOylation on autosomal single copy and repetitive loci, as well as the inactive X chromosome (Xi). This research sheds light on the mechanisms underlying the regulation of SMCHD1 and its implications for diseases such as facioscapulohumeral muscular dystrophy (FSHD). [Extracted from the article]

A recent study conducted at the University Hospital Centre Zagreb in Croatia focused on personalized medicine and the identification of a novel variant in ANO5 muscular dystrophy using whole genome sequencing and quad analysis. The research emphasized the importance of early diagnosis for effective clinical management and highlighted the role of quad-joint whole genome sequencing in diagnosing and managing ANO5 muscle disease. This study is significant as it identified a previously unreported variant and provided insights into the spectrum of ANO5 muscle disease. [Extracted from the article]

A patent has been issued for compositions and methods of treating facioscapulohumeral muscular dystrophy (FSHD) by Avidity Biosciences Inc. The patent involves polynucleic acid molecules and pharmaceutical compositions for modulating a gene associated with muscle atrophy, particularly FSHD. The method includes delivering an oligonucleotide to a subject with FSHD, which brings about degradation of DUX4 mRNA in muscle cells. The patent details specific modifications and conjugates for effective treatment. [Extracted from the article]

A recent study conducted at Cincinnati Children's Hospital Medical Center has examined the impact of genotype on the age at which individuals with Duchenne Muscular Dystrophy (DMD) lose the ability to walk. The study focused on a large cohort of DMD patients who were treated with corticosteroids at a single center. The results showed that certain genotypes were associated with either earlier or later age at loss of ambulation. These findings confirm previous observations of genotype-phenotype correlations in DMD and provide valuable information for trial design and clinical management. [Extracted from the article]

A recent study conducted by researchers at the University of Ha'il in Saudi Arabia explores potential therapeutic targets and natural compounds for Duchenne muscular dystrophy (DMD). The study utilizes an integrative approach, combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations. Through the analysis of gene expression data, the study identifies ten hub genes that play a critical role in the pathology of DMD. Additionally, three natural compounds are identified as potential inhibitors, with two compounds showing promise as inhibitors of the SMAD3 protein, which is associated with fibrotic and inflammatory mechanisms in DMD. The findings suggest that these compounds could be viable candidates for experimental validation against DMD. [Extracted from the article]

A patent has been issued to the President and Fellows of Harvard College for methods and agents that enhance the engraftment of myogenic progenitor cells into muscle tissue. Myoblasts, which are mononucleated muscle progenitors, play a crucial role in repairing and rebuilding muscle fibers. However, challenges in obtaining sufficient numbers of myoblasts and achieving high engraftment efficiencies have hindered the clinical application of transplantation approaches. The patent describes a high-throughput screening method in zebrafish that identified agents, such as compounds that increase intracellular calcium levels, which can enhance the engraftment efficiency of myogenic progenitor cells. This research has potential implications for the treatment of muscle damage and diseases like Duchenne Muscular Dystrophy. [Extracted from the article]

Dyne Therapeutics Inc. has been issued a patent for muscle targeting complexes that can be used to treat myotonic dystrophy. Myotonic dystrophy is a genetic disease characterized by muscle loss, diminished muscle function, insulin resistance, and neurological abnormalities. The complexes described in the patent are designed to deliver molecular payloads to muscle cells, specifically targeting the expression or activity of disease-associated genes. The complexes utilize muscle-targeting antibodies that bind to receptors on the surface of muscle cells, allowing for the release of therapeutic molecules inside the cells. This patent provides potential new avenues for the treatment of myotonic dystrophy. [Extracted from the article]

A patent application titled "Compositions And Methods Of Treating Facioscapulohumeral Muscular Dystrophy" is currently being reviewed by the US Patent and Trademark Office. The application describes a method for treating Facioscapulohumeral muscular dystrophy (FSHD) using a polynucleic acid conjugate that targets a specific gene associated with FSHD. This conjugate mediates RNA interference against the gene, reducing the quantity of the mRNA transcript and alleviating muscle atrophy and other symptoms of FSHD. The patent application also discusses the use of modified nucleotides and linkers in the polynucleic acid molecule conjugate, as well as the formulation of a pharmaceutical composition for various routes of administration. FSHD is a genetic disorder that affects muscle function and can also impact vision, hearing, and the heart or lungs. [Extracted from the article]

A clinical trial, NCT06600308, is underway to investigate the impact of facioscapulohumeral muscular dystrophy (FSH) on patients' ability to walk. FSH is a genetic condition that causes muscle weakness and atrophy, particularly in the face, upper limbs, and lower limbs, resulting in difficulties with walking. The trial aims to determine the effectiveness of quick and easy walking tests in assessing the functional abilities of FSH patients, comparing the results with the Motor Function Measurement (MFM) scale currently used in France. The study will utilize innovative connected tools, such as inertial units, to gather more objective and efficient data for monitoring FSH patients. The WANTED project seeks to evaluate the value of walking tests as part of the functional evaluation of patients with FSH. By utilizing quantified gait analysis technology and innovative connected tools, such as inertial units, the project aims to more effectively and objectively assess locomotion disorders. The ultimate goal is to enhance the day-to-day monitoring of FSH patients by healthcare professionals. The study is currently recruiting participants and will take place in France. [Extracted from the article]

This document provides information about a clinical trial for a gene therapy treatment called delandistrogene moxeparvovec (also known as SRP-9001 or ELEVIDYS) for individuals with Duchenne muscular dystrophy (DMD). The trial is currently not recruiting participants and aims to enroll 16 male children between the ages of 4 and 8. The treatment involves a single intravenous infusion of delandistrogene moxeparvovec after a plasmapheresis procedure, provided that certain antibody levels are sufficiently low. The trial is being conducted by Sarepta Therapeutics, Inc. in the United States. [Extracted from the article]

Spinalcyte LLC has been granted a patent for fibroblast therapy to treat Duchenne muscular dystrophy. The patent highlights the importance of muscle maintenance and repair, as well as the role of inflammation and immunopathology in the disease's progression. It also acknowledges the limitations of current treatments and the need for new approaches. The patent describes a method using fibroblast cells or exosomes derived from these cells to reverse, ameliorate, or prevent symptoms associated with muscular dystrophy. The cells can be derived from various tissues and administered to the individual, resulting in improved muscle function. The patent also mentions the production of exosomes that can enhance cell proliferation. [Extracted from the article]

A recent study conducted by researchers at the National Center of Neurology and Psychiatry in Tokyo, Japan, has identified a new patient with a rare form of collagen VI-related myopathy. The patient had genetic variants in the COL6A2 gene, specifically in the polyadenylation signal in the 3'-untranslated region. The study found that the patient's muscles exhibited a deficiency in collagen VI in the sarcolemma but not in the interstitium, indicating a specific pattern of collagen VI deficiency. The research provides insights into the mechanism of alternative splicing switches for polyadenylation selection. [Extracted from the article]

A recent study conducted by researchers at Guangxi Medical University has shed light on the complex rearrangements involving the DMD gene, which is associated with Duchenne and Becker muscular dystrophy. The researchers used optical genome mapping (OGM) to explore the structure and pattern of these rearrangements in two families. They found that the rearrangements differed between the families and had different phenotypical effects. The study highlights the importance of validating breakpoints and rearrangement patterns for understanding the functional implications of genomic structural variations. OGM provides valuable insights into the etiology of DMD and enhances our understanding of the cryptic effects of complex rearrangements. [Extracted from the article]

A report from researchers at Washington University discusses the findings of studies on Limb-Girdle Muscular Dystrophies (LGMDs). LGMDs are a group of genetically diverse conditions characterized by progressive weakness, elevated creatine kinase levels, and dystrophic features on muscle biopsy. The researchers used gene curation to evaluate 31 genes implicated in LGMD and classified 30 of them as definitive, 4 as moderate, and 1 as limited in terms of their relationship to the disease. They encourage the global neuromuscular community to publish case-level data to further clarify LGMD associations. [Extracted from the article]

A new study conducted by a researcher at Beijing Sport University explores gene therapy as a potential treatment strategy for Facioscapulohumeral Muscular Dystrophy (FSHD). FSHD is a genetic disease that causes degenerative changes in the muscles, leading to loss of mobility and self-care ability for many patients. The study reviews the current literature on FSHD and evaluates various gene therapy approaches targeting the underlying genetic defect. While gene therapy shows promise, it is still in the clinical trial stage. The study provides valuable insights into the advancements and limitations of gene therapy for FSHD. [Extracted from the article]

A preprint abstract from biorxiv.org discusses the use of cell-derived matrices (CDMs) to study Collagen VI-related congenital muscular dystrophies (COL6-RDs). COL6-RDs are a group of neuromuscular conditions caused by genetic variants in the COL6 genes. The researchers used atomic force microscopy-based force spectroscopy (AFM-FS) to analyze the mechanical properties of CDMs from patients with different phenotypes. They found that the elastic modulus (E) varied with the phenotype and correlated with the organization of COL6 in the CDMs. The study suggests that mechanical analysis of CDMs could be a useful tool for diagnosing and monitoring COL6-RDs and their response to gene therapies. [Extracted from the article]

Researchers from National University Corporation Kumamoto University have submitted a patent application for a therapeutic agent for muscular atrophy. The patent application describes the use of a Delta-Like Protein 4 (Dll4) function inhibitor as an active ingredient in the preventive or therapeutic agent. The inventors have found that Dll4 activates Notch2 in myofibers, leading to muscle atrophy, and by suppressing Notch2 activation by Dll4, muscle atrophy can be suppressed. The patent application provides various embodiments of the preventive or therapeutic agent, including binding inhibitors, expression inhibitors, and collagen binding inhibitors to Dll4. The agent is intended for the treatment of both neurogenic and myogenic amyotrophic diseases, as well as other types of muscular atrophy. [Extracted from the article]

A recent study published on biorxiv.org provides new insights into the molecular pathogenesis of LAMA2-related muscular dystrophy (LAMA2-MD). The study utilized a novel mouse model created using CRISPR-Cas9 technology to mimic the human LAMA2-MD mutation hotspot region. The researchers found that the mice exhibited severe muscular dystrophy and observed decreased expression of the Lama2 gene in specific cell types, potentially contributing to the disruption of gliovascular basal lamina assembly. Transcriptomic analysis of the muscles revealed differentially expressed genes associated with impaired muscle cytoskeleton and development. This study contributes valuable information to our understanding of LAMA2-MD. However, it is important to note that this research has not yet undergone peer review. [Extracted from the article]

A patent application titled "Methods And Materials For Treating Muscular Dystrophy" has been published by the US Patent and Trademark Office. The application, filed by inventors from the University of Pittsburgh, describes a treatment approach for LAMA2-RD, a form of muscular dystrophy. The method involves using adeno-associated viruses (AAV) to deliver a specific DNA sequence to cells, increasing the expression of a Lama1 polypeptide. This approach has the potential to reduce the severity of symptoms in individuals with LAMA2-RD, a condition for which there is currently no cure. [Extracted from the article]

A recent study conducted at the First Affiliated Hospital of Guangxi Medical University in China has found that over 90% of suspected cases of muscular dystrophy (MD) can be confirmed using multiplex ligation-dependent probe amplification (MLPA) combined with a targeted panel. The study enrolled 312 suspected MD patients, with 275 cases being diagnosed as Duchenne/Becker muscular dystrophy (DMD/BMD) and 20 cases being diagnosed as other types of myopathy or nonmuscular diseases. The researchers also highlighted the importance of using whole exome sequencing (WES), whole genome sequencing (WGS), and/or RNA sequencing (RNA-seq) to detect variants missed by standard diagnostic procedures and to identify female patients and mosaic carriers for optimal genetic counseling. [Extracted from the article]

A clinical trial, NCT06579859, has been launched to assess the natural history of Duchenne Muscular Dystrophy (DMD). DMD is a rare progressive neuromuscular disease caused by a mutation in the dystrophin gene, leading to muscle degeneration and loss of functional milestones. Improved standards of care and early glucocorticoid treatment have changed the disease's natural history, and there is increasing evidence of additional benefits from new therapeutic approaches. The aim of this project is to better define the natural history of DMD and understand the clinical and motor functional trajectories based on different genotypes. [Extracted from the article]

Researchers from West China Second University Hospital have conducted a study on Duchenne muscular dystrophy (DMD) and its impact on cardiac function. The study found that electrocardiogram (ECG), specifically vectorcardiogram (VCG), can be a powerful tool in assessing patients with reduced left ventricular (LV) systolic dysfunction. The researchers analyzed VCG recordings from 306 DMD patients and compared them to age-matched normal children. They found that certain VCG parameters, such as QRS loop percentage in specific quadrants, were abnormal in DMD patients, even at a young age. The study suggests that early evaluation of myocardium using VCG could help predict cardiac systolic dysfunction in DMD patients and aid in their management. [Extracted from the article]

A recent study conducted at the University of Alberta in Canada explores the current landscape of oligonucleotide therapies for facioscapulohumeral muscular dystrophy (FSHD). FSHD is an inherited myopathy characterized by progressive muscle atrophy, primarily affecting the face, shoulder girdle, and upper arms. The study focuses on the use of sequence-specific oligonucleotides to reduce the levels of the DUX4 protein, which is responsible for the pathology of FSHD. The researchers outline the mechanisms of action of these therapies and summarize the preclinical results obtained in cellular and murine disease models. This review provides valuable insights into potential therapeutic approaches for FSHD. [Extracted from the article]

A recent report from the National Institute of Allergy and Infectious Diseases (NIAID) discusses the findings on Myotonic Dystrophy Type 1 (DM1), a form of muscular dystrophy that causes progressive muscle loss and weakness. DM1 is an autosomal dominant condition caused by an unstable CTG expansion in the myotonic dystrophy protein kinase (DMPK) gene. The severity of the disease is correlated with the size of the CTG expansion. The report provides information on various diagnostic methods for DM1 and supersedes previous technical standards and guidelines. The research is aimed at genetic testing professionals familiar with the disease and analysis methods. [Extracted from the article]

A recent study conducted by researchers at the Medical College of Wisconsin focuses on gene therapy for Duchenne muscular dystrophy (DMD). DMD is a progressive muscle wasting disorder that primarily affects males. The study identified high mobility group box 1 (HMGB1) as a potential biomarker for DMD-related inflammation. The researchers found that HMGB1 protein levels were increased in skeletal muscle of mice with DMD, but decreased when treated with adeno-associated virus (AAV)-microdystrophin. However, there was a strain-specific difference in DMD-related immunopathology. This research provides valuable insights into potential therapeutic approaches for DMD. [Extracted from the article]

A recent study conducted by researchers at the University of Ferrara in Italy explored the potential of using ursodeoxycholic acid-conjugated oligonucleotides (ASOs) to treat Duchenne muscular dystrophy (DMD). The researchers investigated the ability of these ASOs to permeate intestinal barriers in vitro using a co-culture system. They found that the ASOs, when encapsulated in exosomes, were able to induce exon skipping in DMD myotubes, suggesting their potential as a therapeutic option. However, further research is needed to understand the delivery mechanisms of ASOs through gymnosis or exosomes. This study provides valuable insights into the development of oligonucleotide therapeutics for DMD treatment. [Extracted from the article]

A recent preprint abstract from biorxiv.org discusses the potential of inhibiting EZH2 as a complementary treatment for Duchenne muscular dystrophy (DMD). DMD is a genetic disorder caused by mutations in the dystrophin gene, and glucocorticoid derivatives are currently the main therapeutic option. However, the molecular mechanism of glucocorticoid action is not fully understood, and additional remedies are needed. The study used single-nucleus RNA-sequencing and spatial transcriptome analyses to investigate pathogenic features in DMD patients and the effects of glucocorticoids. The researchers found that inhibiting EZH2 in mice improved muscle phenotype by overriding the muscle weakness and fibrogenic effects of glucocorticoids. This research provides insights into potential therapeutic options for DMD. [Extracted from the article]

A recent study conducted by researchers at Yonsei University in Seoul, South Korea, explores the use of optical genome mapping (OGM) for the genetic diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). FSHD is a common form of muscular dystrophy that primarily affects skeletal muscle. The researchers found that OGM is a valuable tool for accurately and reliably detecting the pathogenic contraction of the D4Z4-repeat array, which is associated with FSHD1. OGM also offers a more straightforward and less time-consuming workflow compared to traditional Southern blot analysis. This research provides important insights into the clinical application of OGM for the molecular diagnosis of FSHD. [Extracted from the article]

This article discusses the structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants in muscular dystrophy. The study examines two specific mutations and their effects on the distribution of heterochromatin and euchromatin balance, as well as the relocation of epigenetic marks in shaping chromatin states. The research suggests that these mutations lead to nucleoplasmic aggregates and a perturbation of targeting other proteins on the nucleus. The article emphasizes that further research is needed to fully understand the prognosis of lamin A mediated muscular dystrophies. [Extracted from the article]

A patent application has been filed for a gene therapy to treat Duchenne muscular dystrophy (DMD). The therapy involves delivering a modified version of the dystrophin protein, called micro-dystrophin, to all striated muscles using adeno-associated virus (AAV) gene therapy. The patent application includes details of the nucleotide and amino acid sequences involved, as well as the use of specific promoters and AAV particles. The therapy specifically targets DMD and aims to provide an alternative treatment option for this genetic disorder. [Extracted from the article]