Articles tagged with Muscular Dystrophy
St. Jude Children's Research Hospital appoints Carsten Bönnemann, MD, to lead the newly created Department of Genomic and Translational Neuroscience, focusing on catastrophic neurological disorders. The department aims to develop genetic precision therapies and advance research into complex pediatric neurological conditions.
Genethon's GNT0004 gene therapy shows long-term efficacy in patients with Duchenne muscular dystrophy, maintaining clinical efficacy and safety at two years. The trial included 72 boys aged 6-10 with retained walking ability, treated with GNT0004 at a therapeutic dose.
The company's ATA-200 gene therapy has shown safety, pharmacodynamics, and efficacy results in the first patients treated, offering hope for children with LGMD-R5. The therapy delivers a normal copy of the γ-sarcoglycan gene and has been awarded Orphan Drug Designation in the US and Europe.
Researchers developed the BIND screener to identify brain-related comorbidities in individuals with Duchenne muscular dystrophy. The tool showed strong accuracy in identifying neurodevelopmental and psychiatric conditions in a large international sample of participants.
Researchers used smartphones to track patients with neuromuscular diseases, achieving results comparable to traditional movement tests. The system detected disease-specific movement patterns, allowing for early diagnosis and treatment.
Researchers at Sanford Burnham Prebys have developed a new method to generate more and potent skeletal muscle progenitor cells. The study found that blocking the activity of Janus kinase 2 (JAK2) yields a twofold increase in cell yield, while also delivering more mature and effective cells for regenerative medicine treatment.
The American College of Chest Physicians has achieved a critical milestone in its advocacy efforts, leading to changes in federal coverage guidelines for noninvasive ventilation devices used in the home. These revised guidelines reflect major recommendations submitted by CHEST and aim to enhance patient care.
Researchers found a hormone combination of growth hormone and testosterone to be safe and effective in improving muscle mass, strength and mobility in men with facioscapulohumeral muscular dystrophy (FSHD). The treatment resulted in gains of up to 4.5 lbs of lean muscle and improved walking ability by 37 meters.
The Fibrosens project aims to develop a novel platform for real-time monitoring of fibrosis biomarkers in muscular dystrophies using nanoplasmonic sensors. The project will enable faster and cheaper testing of anti-fibrotic drug candidates, as well as personalized drug screenings for patients with specific mutations.
Genethon is launching a Phase 3 clinical trial in Europe for its low-dose microdystrophin gene therapy GNT0004, targeting boys aged 6 to 10 with retained walking ability. The trial aims to demonstrate efficacy and tolerance of the treatment.
Researchers found that inhibiting the GLUD1 enzyme improves muscle strength and coordination in DMD mouse models, offering a potential therapeutic pathway for treating the disease. The study suggests a promising approach to restore muscle function beyond symptom relief.
A new study published in Neurology found that personalized home-based aerobic exercise combined with coaching improves physical fitness in people with neuromuscular diseases. After 18 months, participants who received the exercise program showed a significant increase in oxygen levels and a 10% boost in physical fitness.
The AAN has issued an Evidence in Focus article on delandistrogene moxeparvovec, a gene therapy approved by the FDA for Duchenne muscular dystrophy. The therapy may slow motor function decline but its long-term effectiveness and safety are still uncertain.
Scientists have uncovered a genetic link between autism spectrum disorder and myotonic dystrophy type 1, suggesting a new mechanism for social behaviors in ASD. The study found that the genetic variation causing DM1 affects brain development and leads to protein imbalance, mis-splicing of genes involved in brain function.
Researchers at SickKids identified three new genes associated with rare childhood diarrhea, providing a diagnosis for 48% of cases. The study found that genetic testing and targeted treatments can improve the quality of life for children like Sophie, who was diagnosed with CODE at just two days old.
Researchers at the University of Houston College of Pharmacy have identified a potential therapeutic target to repair injured muscles. They discovered that fibroblast growth factor–inducible 14 (Fn14) plays a crucial role in regulating satellite cell stability and function, which are responsible for muscle growth, repair, and regenerat...
Myotonic Dystrophy Type 1 affects multiple organs, including the heart, and is caused by a mutation in the DMPK gene that leads to disrupted RNA processing. Researchers at Baylor College of Medicine tested MBNL overexpression in a mouse model, achieving partial rescue of cardiac phenotypes.
Researchers at USC Dornsife College of Letters, Arts and Sciences have made a breakthrough discovery about how tiny protein clusters form in cells. These nanoclusters play a crucial role in mechanotransduction, a process that fails in people with Emery-Dreifuss muscular dystrophy, leading to muscle weakness and heart problems.
A new drug-free intervention targets the root cause of progressive loss of neural function in SMA by gradually reawakening functionally silent motor neurons. Early results show improved leg muscle strength and walking in adults with SMA, regardless of symptom severity.
Researchers have successfully developed a gene-editing approach using CRISPR-Cas9 to correct the genetic error causing dysferlin protein deficiency, a leading cause of muscular dystrophy. In new mouse models, they restored muscle function and regrowth after transplanting corrected cells.
Researchers characterize the mysterious C-terminal domain of dystrophin and its role in stabilizing cellular membranes across various tissues. The study reveals that dystrophin's CT domain interacts differently with two major dystrobrevin isoforms, driving differences in binding affinity and interaction modes.
A preclinical study suggests the experimental compound K884 can restore lost muscle function in Duchenne muscular dystrophy (DMD) patients by strengthening muscle repair. The drug targets specific enzymes, allowing muscle stem cells to develop into functional tissue.
A new study found that gene therapy delandistrogene moxeparvovec significantly extended the median survival of Duchenne muscular dystrophy (DMD) rats to >25 months. Additionally, the treatment elicited statistically significant improvements in cardiac parameters and mobility.
Positive initial results from Genethon's gene therapy GNT0004 show stabilization of motor functions and improved dystrophin expression in patients with Duchenne Muscular Dystrophy. The therapy is expected to be launched in pivotal trial phases in Europe and the US in Q2/2025.
A new RNA-based technology called StitchR facilitates effective use of gene therapy for difficult-to-treat, large-gene diseases like muscular dystrophies. It delivers two halves of a gene separately, resulting in seamless reconstitution of large mRNA in affected tissues.
A new study provides deeper understanding of Myotonic Dystrophy Type 1 (DM1) by revealing an unexpected link between the cardiac condition and SCN5A protein. The research found that reducing fetal SCN5A expression did not correct heart defects, suggesting alternative approaches may be needed to address the condition.
The US Department of Defense has awarded $514,000 to study the efficacy of gene editors in treating Duchenne Muscular Dystrophy. Researchers will explore non-viral options for delivering gene therapy through 'self-delivering' gene editors, aiming to improve safety and efficacy.
A new screening tool, DuMAND Checklist, has shown promise for assessing neurobehavioral difficulties in children with Duchenne muscular dystrophy and improving quality of life. The checklist covers a range of issues including behavior, psychiatric disorders, and cognitive deficits.
Researchers developed a triple-adeno-associated virus vector system to deliver full-length dystrophin protein into muscles, restoring muscle health and strength in mice models with Duchenne muscular dystrophy. The approach has shown promise for treating patients with the genetic disorder.
Researchers at UW Medicine have developed a new gene therapy that delivers protein packets to replace defective genes in muscles, halting disease progression and reversing pathology. The therapy uses adeno-associated viral vectors and aims to restore normal muscle health, with human trials expected to begin in two years.
Researchers at Duke University have developed a technique to grow complex, functional 3D muscle tissue from stem cells in the laboratory, replicating patient symptoms and treatment responses. The study reveals biological mechanisms underlying LGMD2B's characteristic loss of mobility and demonstrates that existing treatments may allevia...
Researchers tested a therapy combining photobiomodulation and idebenone to minimize Duchenne muscular dystrophy progression. The strategy prevented muscle degeneration and improved regenerative capacity, with synergistic effects observed when administered together.
A recent study found that the SMCHD1 protein plays a crucial role in regulating alternative splicing, which affects the progression of FSHD. Mutations in SMCHD1 lead to splicing errors, disrupting genes like DNMT3B and causing harmful overexpression of DUX4.
Researchers have developed a novel platform for modeling human muscle diseases in C. elegans worms using patient-derived extracellular vesicles, revealing muscle atrophy similar to human symptoms. The innovation enables versatile and scalable disease modeling with potential applications beyond genetic disorders.
A groundbreaking study reveals an unsuspected role of the SNUPN gene in muscle cell function, identifying it as the causative factor for a debilitating muscular dystrophy. Researchers found that alterations in the Snurportin-1 protein encoded by the SNUPN gene disrupts muscle cell integrity and function.
A recent study at Umeå University has discovered a specific gene, fhl2b, that protects against severe muscle disease by preventing the breakdown of muscles in the body. The researchers found that when this gene is expressed in all muscles, muscular dystrophin is alleviated throughout the body.
Researchers assess vamorolone's promise in treating Duchenne muscular dystrophy, finding similar efficacy to prednisone but some reduced adverse side effects. However, further investigation is needed on its cost and mechanisms of action.
Researchers at IBEC developed a 3D muscle model that can replicate the damage caused by Duchenne muscular dystrophy, enabling preclinical studies of drugs for treating the disease. The model, created using patient cells, includes muscle fibers that can contract when stimulated, and is an essential step towards finding a cure.
A global research collaboration led by WEHI has found a way to boost a gene linked to FSHD, potentially disabling the toxic protein responsible for muscle cells and tissue death. The discovery brings the team closer to finding a treatment for the genetic condition, which affects around 870,000 people worldwide.
Researchers isolated the primary disease-causing component of muscular dystrophy to the mitochondrial permeability pore and found that preventing its function stops disease progression. A potential treatment strategy involves targeting the mitochondrial pore with a nontoxic inhibitor, which could provide benefits independently or in co...
A CRISPR-Cas3 system has restored dystrophin protein function in induced pluripotent stem cells from patients with Duchenne muscular dystrophy. The approach uses a dual CRISPR RNA method to remove large sections of the dystrophin gene, yielding truncated but still functional proteins for various mutation patterns.
Researchers at Washington University School of Medicine developed a catalog to classify protein variants associated with limb girdle muscular dystrophy. The approach enables doctors to determine the pathogenicity of variants, leading to more precise diagnoses and potential therapies.
Indiana University School of Medicine researchers will investigate muscle-directed gene therapies and test alternative treatment options for degenerative disorders like Duchenne muscular dystrophy. The goal is to develop more successful and long-term ways to help patients living with muscle disorders.
A team of researchers has identified TAK1 as a regulator of skeletal muscle mass, slowing down disease progression and improving muscle function in Duchenne muscular dystrophy. By targeting this protein, they can suppress muscle fiber death and enhance myofiber growth, offering a promising new approach to treatment.
A new therapy delivery method, using modified viruses engineered with fusogens Myomaker and Myomerger, shows promise as a treatment for Duchenne muscular dystrophy. The vector can deliver a vital gene needed for muscle function to cells, potentially providing a lifelong supply of the missing gene.
A novel small molecule, MK-8722, has been shown to trigger improved muscle health in mice with muscular dystrophy by activating AMPK. This finding highlights the potential of this class of AMPK activators as a cost-effective and efficacious method for DMD treatment.
Researchers at Indiana University School of Medicine investigated the protein BVES and its crucial role in muscular dystrophy. They discovered that inhibiting proteasome degradation with Bortezomib can alleviate symptoms of BVES-deficient muscular dystrophy.
A recent study has uncovered new ways genetic mutations in patients with muscular dystrophies may lead to disease and neurological problems. The research found that certain genes affected in these disorders are crucial for the proper wiring of sensory axons in flies, a discovery that could have implications for humans.
The American College of Chest Physicians released a clinical practice guideline on respiratory management for patients with neuromuscular weakness, providing evidence-based recommendations for mouthpiece ventilation and airway clearance therapies. The guideline aims to improve care for this vulnerable population.
Scientists discovered how alternative splicing enables the compensatory increase of MBNL2 protein in response to MBNL1 loss-of-function. This mechanism, found in animal models and potentially applicable to human patients, may help explain disease variability and offer new therapeutic avenues for Myotonic Dystrophy Type 1.
Researchers at Universitat Autonoma de Barcelona solved the structure of a functional amyloid protein, hnRNPDL-2, which forms stable and non-toxic fibres in humans. The discovery changes the concept of disease origin and treatment, suggesting that molecules stabilising or facilitating fibre formation could be the key to therapy.
Researchers at the University of Montreal discovered a key mechanism in muscle regeneration, enabling targeted therapies for diseases like muscular dystrophy. By biasing the conformation of a protein called ELMO2, they improved muscle fusion and regeneration in mouse models.
Researchers from Japan have developed an RNA interference method using antisense oligonucleotides to correct a genetic defect in Fukuyama Muscular Dystrophy. This approach has shown promise in treating patients with the disease, which is characterized by generalized muscle weakness and intellectual disability.
Researchers discovered that blocking the ion channel TRPC6 prolongs survival and improves muscle function in mice with severe Duchenne muscular dystrophy. The study also reduced bone deformities associated with weak muscles.
Researchers discovered common mutations and dysfunction in myotonic dystrophy type 1 and Rett syndrome using brain organoids. The study suggests that targeting NMDA receptors may ameliorate cognitive impairments in young patients with DM1.
Researchers have discovered that a cancer drug could slow the progress of Duchenne muscular dystrophy in mice by increasing muscle fibre resilience. The findings suggest that the drug may help delay disease progression and improve mobility for patients, potentially serving as an adjunct to emerging gene therapy approaches.
Researchers recommend daily steroid doses for children with Duchenne muscular dystrophy, finding improved motor and pulmonary functions in boys with the disease. The study suggests a standard of care is needed to establish benefits over potential side effects.
A new cell therapy has shown promising results in slowing the progression of Duchenne muscular dystrophy, a rare genetic disorder. The treatment uses heart cells to improve skeletal muscle and heart function, offering a potential cure for advanced disease cases.
A new study from Northwestern University found that once-weekly prednisone treatment improved exercise endurance, increased lean body mass, and reduced weight in obese mice. The treatment also promoted nutrient uptake into muscles and increased adiponectin levels, a hormone that helps protect against diabetes and insulin resistance.
Researchers at the University of Maine used zebrafish to test the effectiveness of neuromuscular electrical stimulation (NMES) on muscle strength and structure. The study found that only one NMES regimen, endurance neuromuscular stimulation (eNMES), improved muscle health when combined with an antioxidant and a specific receptor.