Articles tagged with Muscular Dystrophy
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Researchers at the University of Alberta have developed a new cocktail of treatments that could benefit up to 45% of patients with Duchenne muscular dystrophy. The treatment uses an approach called 'exon skipping' to produce the protein needed to rebuild muscle tissue, addressing limitations of existing exon-skipping molecules.
A new study suggests that the timing of steroid treatment may be crucial to its effectiveness in patients with Duchenne muscular dystrophy. Researchers found that weekly doses of prednisone were more effective when administered at a specific time of day, promoting muscle function and reducing side effects.
Researchers at EPFL's School of Life Sciences discovered that blocking sphingolipid synthesis can reverse the symptoms of Duchenne muscular dystrophy, including loss of muscle function and inflammation. This study identifies sphingolipid inhibition as a potential treatment for muscular dystrophies.
An international team led by the University of Ottawa has published findings on the importance of the enzyme GCN5 in maintaining muscle integrity. The study discovered that GCN5 plays a crucial role in boosting the expression of key structural proteins, notably dystrophin.
Researchers developed a non-muscle targeted gene therapy that enhances muscle fiber repair and improves muscle function in LGMD 2B patients. The treatment, administered via a single injection, reduces muscle degeneration and restores myofiber size and muscle strength.
A first-in-human study of golodirsen, an exon-skipping therapy, demonstrated its efficacy in ambulatory patients with Duchenne Muscular Dystrophy (DMD). The treatment significantly increased dystrophin protein expression and improved clinical outcomes, including a reduced decline in the 6-minute walk test.
Researchers have created a human disease model of FCMD using stem cells from a patient, which successfully mimicked the disorder's brain defects. The study found that a small compound called Mannan-007 can restore αDG glycosylation and reduce FCMD-related defects.
Researchers have developed a new family of adeno-associated viruses (AAVs) that target muscle tissue more efficiently, reducing the risk of liver damage and allowing for lower doses. This improved delivery method has shown promise in treating genetic muscle diseases, including Duchenne muscular dystrophy and X-linked myotubular myopathy.
A new study has established recognized terms, definitions, design characteristics, and prescription criteria for off-the-shelf stability footwear. This standardized approach aims to improve the effectiveness of therapeutic footwear in treating children with various mobility issues.
A compassionate-use study released in STEM CELLS Translational Medicine found significant improvement in body muscles with mesenchymal stem cells derived from Wharton's jelly, a substance in the umbilical cord. The treatment resulted in improved muscle strength and function without serious side effects.
The Duchenne Regulatory Science Consortium (D-RSC) database will share individual-level data with qualified researchers to accelerate therapy development for Duchenne muscular dystrophy. The database includes data from clinical trials and natural history studies, and is fully de-identified to ensure participant anonymity.
Researchers at the University of Minnesota Medical School discovered a novel gene, JAG2, associated with a specific form of muscular dystrophy. The study found a distinct pattern of abnormalities on muscle MRI that may aid in identifying patients with this condition.
Researchers at UC Irvine discover the interaction between stromal progenitors and ILC2s that promotes muscle eosinophilia and fibrosis-associated gene expression. This finding could lead to the development of new treatments for Duchenne muscular dystrophy, a fatal muscle disease.
Researchers at University of Exeter identified a way to rescue mutated muscle cells using novel drugs, providing a possible new treatment for rare childhood illness. The study found that compounds targeting mitochondrial energy production improved muscle function in animal models with Duchenne Muscular Dystrophy.
Researchers at Cedars-Sinai Medical Center have found that mixing exosomes with the protein casein can effectively treat muscular dystrophy and heart failure in laboratory mice. The study could lead to clinical trials of oral treatment for patients.
A genetic mutation in the cystic fibrosis gene may accelerate heart function decline in DMD patients, suggesting a potential benefit from more aggressive and earlier cardiac interventions. Researchers identified this specific mutation as exacerbating cardiomyopathy in DMD patients.
Researchers at UCLA have identified a compound called AMBMP that can activate chemical signals inside muscle cells, increasing muscle mass and strength. This finding offers new hope for treating people with limb girdle muscular dystrophy, a disease characterized by progressive muscle weakness.
Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD) by targeting the 'undruggable' enzyme MKP5. The team found that a compound blocking the enzyme's activity in muscle cells suggests a promising new therapeutic strategy for treating DMD.
The study found a connection between dystrophic muscles and the lymphatic system in mice with Duchenne disease. The researchers identified changes in protein expression in the spleen, which suggests that the disease causes secondary effects on the immune response and inflammatory processes.
A synthetic molecule has been designed to stop production of a toxic protein that destroys muscles in people with facioscapulohumeral muscular dystrophy (FSHD). Researchers found that the treatment effectively reduced DUX4 production by over 99% and improved muscle cell function.
Duchenne muscular dystrophy researchers have identified a potential new method for therapies, using small molecules to increase utrophin protein production. This approach bypasses the immune system's challenges and may provide functional characteristics similar to dystrophin.
A Rutgers-led team has found that altering a protein called Connexin-43 may alleviate DMD-related heart disease by protecting against irregular heartbeats and late-stage failure. This discovery offers hope for prolonging the lives of muscular dystrophy patients, who are currently plagued by heart muscle breakdown.
A new genetic test approach may help diagnose Emery-Dreifuss muscular dystrophy and other rare diseases by identifying mutations that trigger muscle-wasting conditions. The study identified over 20 new mutations linked to the condition, which affects around one in 100,000 people worldwide.
Researchers at the University of Alberta are developing a new treatment that could help almost half of patients with Duchenne muscular dystrophy by restoring dystrophin protein production. The experimental cocktail of DNA-like molecules has shown dramatic regrowth of dystrophin, which acts as a support beam to keep muscles strong.
A new clinical trial found that a cost-effective generic medication, spironolactone, is just as effective as the more expensive drug eplerenone in preserving cardiovascular function in boys with Duchenne muscular dystrophy. The study also showed stabilization of kidney and lung function, with no serious side effects.
A team led by Michael Kyba identified an inhibitor that protects cells from toxic effects associated with facioscapulohumeral muscular dystrophy (FSHD) in cells and mice. The compound, iP300w, blocks the p300 enzyme needed by the DUX4 protein, preventing its toxic effects.
A mutation in the Transportin 3 gene that causes a rare muscle disease is found to protect against HIV-1 infection. The study uses blood cells from patients with this mutation to understand how it works and may lead to new therapeutic strategies for both diseases.
Eteplirsen shows supportive results in delaying respiratory decline in DMD patients, with slower rates of decline observed in both ambulatory and non-ambulatory patients. This may have notable positive implications on quality of life and potentially delayed mortality.
Researchers have identified a potential therapy for limb girdle muscular dystrophy using lithium to improve muscle size and strength in mice. The findings suggest that inhibiting the protein GSK3beta with lithium chloride can lead to significant improvements in mouse strength and muscle mass.
Researchers from Deerfield Institute found a significant increase in DMD prevalence attributed to enhanced treatments and increased longevity. The study suggests that there is a larger patient population that may benefit from novel treatment interventions such as targeted gene therapies.
Researchers at Sanford Burnham Prebys have identified a molecular signaling pathway involving Stat3 and Fam3a proteins that regulates muscle stem cell fate. Boosting these cells could lead to muscle-boosting therapeutics for muscular dystrophies or age-related muscle decline, potentially helping people live an active and independent life.
FSU researchers have uncovered a novel protein degradation pathway that may lead to better understanding of muscular dystrophy and other diseases. The study, led by FSU graduate student Bailey Koch, found that an enzyme responsible for breaking down a key protein linked to these conditions is essential to cellular processes.
Newer versions of gene therapy cassettes deliver better performance, increasing muscle strength and protecting against contraction-induced injuries in animal models. The treatment, micro-dystrophin, has been restructured to enhance its functionality.
Researchers have restored muscle stem cell function in animal models of Duchenne muscular dystrophy, leading to efficient muscle regeneration and preventing progressive loss of muscle strength. The study's findings suggest a new treatment approach may be effective in addressing this complex disease.
A newly published mouse model of Facioscapulohumeral muscular dystrophy (FSHD) has been developed to test potential therapeutics. The TIC-DUX4 mice express DUX4 only when exposed to the drug Tamoxifen, allowing researchers to control gene expression and study its effects on muscle weakness.
Massachusetts General Hospital researchers discovered that extracellular RNA in urine can serve as a source of biomarkers for muscular dystrophy. This non-invasive assay allows for the monitoring of systemic diseases and may reduce or eliminate the need for muscle biopsies, enabling early identification of therapeutic response.
Fibro-adipogenic progenitors (FAPs) have multiple identities during muscle regeneration, driving symptoms of Duchenne muscular dystrophy (DMD). Targeting FAPs with defined markers may prevent fibrosis and promote regeneration.
Researchers used CRISPR gene editing to restore dystrophin protein levels by up to 92% in dogs with Duchenne muscular dystrophy. The study provides strong indication of a potential lifesaving treatment for the disease, which affects one in 5,000 boys and leads to muscle and heart failure.
Researchers found that a protein called brain-derived neurotrophic factor (BDNF) may help protect failing hearts in children and young adults with Duchenne muscular dystrophy. Preliminary studies suggest that supplementing BDNF signaling could be a new way to treat heart complications in this disease.
Researchers found that a dietary supplement derived from glucose increases muscle-force production in the Duchenne muscular dystrophy (DMD) mouse model by 50% after ten days. The study suggests that N-acetylglucosamine may preserve muscular strength and is an inexpensive product with potential as a treatment for DMD patients.
Researchers at Kazan University's Department of Morphology and General Pathology are working on diagnostics and medication development for orphan diseases. The department aims to create medications to alleviate conditions such as Duchenne muscular dystrophy, with a focus on rare genetic diseases.
Researchers found that Celecoxib treatment increased utrophin protein levels and improved muscle function in DMD mouse models. The study suggests that Celecoxib may have therapeutic potential for addressing key features of Duchenne muscular dystrophy.
New mouse studies show that tamoxifen and raloxifene improve cardiac, respiratory, and skeletal muscle functions while increasing bone density in muscular dystrophy models. The treatments delay or halt disease progression, reducing muscle pathology and inflammation.
Researchers at University of Illinois Chicago developed chimeric cells that can restore the structural muscle protein dystrophin in people with Duchenne muscular dystrophy, potentially avoiding the need for immunosuppressive drugs.
A new study shows that injecting cardiac progenitor cells can reverse fatal heart disease caused by Duchenne muscular dystrophy, while also improving limb strength and movement ability. Exosomes secreted by the injected cells unexpectedly restore muscle function in a mouse model of muscular dystrophy.
Scientists developed a CRISPR gene-editing technique that can correct most DMD mutations by making a single cut at strategic points along the patient's DNA. The new strategy enhances genome editing accuracy and offers an efficient alternative to individualized molecular treatments.
A Phase I/II clinical trial found that cardiac progenitor cell infusions improved heart function and arm strength in patients with Duchenne muscular dystrophy. The study showed a 7% reduction in heart scar tissue and improved skeletal muscle function in the hands and forearms of patients who received the treatment.
A Saint Louis University researcher has identified two classes of drugs that could turn off the DUX4 protein responsible for facioscapulohumeral muscular dystrophy (FSHD). The first class of drugs inhibits bromodomain and extra-terminal proteins, while the second class turns on beta-2 adrenergic signaling. These discoveries offer hope ...
Researchers have developed a new CRISPR delivery system, CRISPR-Gold, that can repair the mutation causing Duchenne muscular dystrophy. The system achieves an 18-times-higher correction rate and improves muscle strength and agility in mice.
A new study suggests that enhancing breathing via the brain may limit respiratory muscle dysfunction in Duchenne muscular dystrophy patients. Researchers found that the brain compensates for respiratory muscle weakness by increasing diaphragm activation in mice with dystrophin deficiency.
Scientists have successfully replicated facioscapulohumeral muscular dystrophy (FSH) in mice by inserting the DUX4 gene into skeletal muscle cells. This new animal model holds great promise for developing therapies for FSH, a disease affecting an estimated 38,000 Americans. The study also reveals a previously unknown mechanism of muscl...
A new method reveals abnormally shortened telomeres in DMD patients' muscle stem cells, leading to early loss of regeneration capacity and disease progression. The finding suggests gene therapy and treatments targeting telomere length could slow or stop the disease.
A new technique developed at McGill University has made it possible to study the behavior of individual sarcomeres in muscles. The researchers found that neighboring sarcomeres adjust to the activation of one single sarcomere, leading to a cooperative mechanism that is crucial for understanding muscle contraction.
Researchers developed a gene therapy using microdystrophin to treat Duchenne muscular dystrophy in dogs. The treatment restored muscle function and stabilized clinical symptoms for over 2 years. This breakthrough could lead to a new treatment for children with the disease.
Researchers have designed two proteins that stabilize the cell scaffolding, restoring muscle structure and function in animal models of congenital muscular dystrophy. The study demonstrates significant improvements in muscle force, body weight, and lifespan, providing a potential gene therapy treatment for this rare disease.
A new Northwestern Medicine study found that weekly glucocorticoid steroid doses, such as prednisone, promote muscle repair and recovery in muscle injuries. The study showed that daily doses cause muscle wasting, but weekly doses stimulate the production of annexins and KLF15 proteins, leading to improved muscle performance.
Researchers at UT Southwestern Medical Center successfully corrected Duchenne muscular dystrophy using the gene-editing enzyme CRISPR-Cpf1. The treatment restored production of the missing dystrophin protein, providing a promising new tool for treating this progressive disease.
Duchenne muscular dystrophy affects 1 in 3,500 boys, stealing their ability to walk by age 12 and typically killing them by mid-20s. Researchers at UVA will use a multi-scale computer model to understand how muscle damage and inflammation drive the disease.
Researchers at UC Riverside have developed a new method to measure nonsense-mediated RNA decay (NMD) efficiency in real-time, allowing for the identification of molecules that regulate this pathway. This breakthrough has the potential to lead to the development of targeted treatments for diseases such as ALS and muscular dystrophy.
Research suggests that supplementing mice with quercetin improves biomedical outcomes, providing anti-inflammatory and antioxidant effects. The study also found that quercetin-fed mice were more active than control groups, which could be beneficial for Duchenne Muscular Dystrophy patients.