Articles tagged with Spinal Muscular Atrophy
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A new drug, nusinersen, has shown promise in improving muscle function and nerve activity in babies with infantile-onset spinal muscular atrophy. The phase 2 trial found remarkable improvements in muscle function, but the results are considered preliminary due to the small sample size and open-label design.
A new study by the University of Malta and CNRS/Université de Montpellier reveals a faulty cellular machine cutting and pasting genetic instructions for motor neuron disease. The research suggests that ALS and SMA are related disorders with a shared mechanism that could lead to common treatments.
Researchers have developed a new molecule that targets the SMN2 gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease causing muscles to weaken. The compound effectively 'turns up the volume' on SMN2, allowing it to produce more of the correct SMN protein, which is essential for neuron function.
A new study suggests that a protein deficiency in spinal muscular atrophy (SMA) disrupts cellular endocytosis, leading to muscle weakness. Interestingly, a mild version of this defect may also confer resistance to infections in carriers of the disease.
A new study found that pediatric end-of-life care requires improvement, with 62% of parents' wishes for their child's death location not being fulfilled. Siblings also need more support after a family member's death, and healthcare staff experience logistical barriers to providing adequate bereavement care.
Researchers at the University of Missouri have developed a gene replacement therapy to treat and control Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). The therapy, administered in a single dose, has shown significant improvements in muscle strength, protein expression, and life span in SMARD1 mice. This study provi...
Long-term exercise has been shown to improve muscle resistance and aerobic performance in mice with Spinal Muscular Atrophy. Swimming and running both had beneficial effects on motor neurons affected by the disease, suggesting specific types of exercise may limit neurodegeneration.
Dr. Elliot J. Androphy and his colleagues will test compounds to determine the best candidate to treat spinal muscular atrophy, a genetic disease affecting voluntary muscle movement. The grant aims to increase SMN proteins in mouse models to mitigate the disease.
Researchers have discovered a specific enzyme, JNK3, that plays a critical role in spinal muscular atrophy and suppressing its activity could reduce disease severity. Mice with spinal muscular atrophy showed significant improvement when the JNK3 enzyme was genetically inhibited.
Researchers have developed a new mouse model for spinal muscular atrophy that responds to therapy, allowing for post-symptomatic treatment and potentially improving outcomes for patients. The treatment, an antisense oligonucleotide, restores motor unit function in the muscles even after symptoms have begun.
Harvard Stem Cell Institute researchers discovered molecular changes in SMA that explain why motor neurons are affected, diverging from other neurodegenerative diseases. The findings suggest a stress response pathway convergence between SMA and ALS, potentially leading to a single treatment.
Scientists uncover fragile alliance between SMN protein and Gemins that leads to SMA. Disrupting this balance causes catastrophic consequences, including death in flies and muscle weakness.
Researchers have developed a method to restore Survival of Motor Neuron (SMN) production only in peripheral tissues, allowing them to define the role of the drug both inside and outside of the CNS. The treatment effectively cured mice with spinal muscular atrophy, challenging assumptions about the pathology of the disease.
Researchers have developed a new compound for treating spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken. The compound, an antisense oligonucleotide, repairs the expression of the SMN2 gene and improves survival rate in mice studies.
Small molecule SMN2 splicing modifiers effectively prevent deficits in SMA mouse models by increasing SMN protein production. The treatment also improves life span and normalizes body weight.
Researchers successfully delivered a replacement SMN1 gene to animal models of SMA, extending their survival. The study demonstrates that enough copies of the SMN1 gene can be delivered to motor neurons in the spinal cord.
Researchers have discovered a plant-based compound that targets the root cause of spinal muscular atrophy (SMA), a genetic disorder causing muscle wastage and weakness in infants. Quercetin has shown promise in tests on zebra fish, mice, and fruit flies, offering a potential treatment option for early stages of the disease.
Researchers have found that a plant pigment called quercetin could help prevent nerve damage associated with spinal muscular atrophy (SMA), a leading genetic cause of death in children. Quercetin was shown to significantly improve health of nerve and muscle cells in tests on zebrafish, flies, and mice.
Researchers have discovered a plant pigment called quercetin that targets the mutated gene causing spinal muscular atrophy (SMA), a leading genetic cause of death in children. Quercetin has been shown to improve nerve and muscle cell health in tests on zebra fish, mice, and fruit flies.
Researchers found that a plant pigment called quercetin could help prevent nerve damage associated with SMA. Quercetin treatment improved the health of nerve and muscle cells in zebrafish, flies, and mice.
Researchers discovered that Neurexin2 dysfunction contributes to neurodegeneration in Spinal Muscular Atrophy, a devastating genetic disease affecting infant and young adults. A restoration of Neurexin2 activity partially recovers neuron function in SMN deficient zebrafish, offering a new direction for therapy of neurodegeneration.
Researchers created an animal model of adult-onset spinal muscular atrophy (SMA) using the TSUNAMI method, providing insight into disease progression and potential treatment. The study revealed that only moderate levels of SMN protein are needed in the adult nervous system for normal function.
RG3039 demonstrates benefits in two SMA mouse models, extending survival and improving motor unit function. The drug also positively modifies motor unit pathologies and dysfunction, suggesting potential therapeutic benefit for SMA patients.
The Canadian Gene Cure Foundation has awarded Dr. Faraz Farooq a $90,000 Champions of Genetics: Building the Next Generation Grant to study Spinal Muscular Atrophy (SMA) in mice, accelerating the research process and potentially leading to new treatments for rare diseases.
A new study published in the Journal of Neuroscience reports that Riluzole, an ALS drug, has pinpointed a mechanism for spinal muscular atrophy (SMA) and restored neuromuscular function in worm models. The researchers suggest targeting SK2 potassium channels could lead to a more effective therapy for SMA patients.
Researchers at Columbia University Medical Center have made significant breakthroughs in treating rare genetic disorders. For one, they demonstrated the effectiveness of deoxypyrimidine monophosphates as a treatment for thymidine kinase 2 (TK2) deficiency, a condition causing devastating neuromuscular diseases. Additionally, studies on...
Researchers discover that spinal muscular atrophy results from motor circuit dysfunction, not motor neuron or muscle cell dysfunction. The study identifies a novel molecular pathway and proposes potential therapies involving potassium channel blockers.
A new study confirms the existence of a shared pathway between Lou Gehrig's disease and spinal muscular atrophy, linking the two diseases through their impact on motor neuron function. The study suggests that this shared pathway may lead to common treatment options for both conditions.
Investigators found that low oxygen levels increase SMN2 exon 7 skipping, reducing survival motor neuron protein levels. Higher oxygen treatment improved motor function and reduced disease severity in a mouse model of severe SMA.
A CSHL-led team has developed a new method to model human genetic diseases caused by errors in RNA splicing. The approach, called TSUNAMI, uses targeted 'negative ASOs' to cause missplicing and pathogenesis, offering a unique window into disease progression.
Researchers at the University of Missouri have developed a gene therapy treatment that extends the lives of mice with spinal muscular atrophy by introducing a missing gene into their central nervous systems. This breakthrough offers new hope for treating humans with SMA, potentially providing a cure within 12-18 months.
A study by European Society of Human Genetics researchers identifies a crucial factor, CD36 fatty acid transporter protein, in suppressing response to VPA treatment. Monitoring blood for CD36 levels can help doctors determine response to treatment before starting therapy.
Researchers at University of North Carolina Health Care have discovered a new role for the SMN gene in spinal muscular atrophy, contradicting previous assumptions. The study suggests that faulty processing of genetic material is not the primary cause of the disease, but rather a separate function of the SMN gene.
Researchers employ pluripotent stem cells to model spinal muscular atrophy, revealing cell death mechanisms and identifying potential pharmaceutical treatments. The study provides an important clue for developing medicines to reverse or prevent motor neuron cell death in patients with the disease.
Researchers have identified a genetic mutation in the DYNC1H1 gene as the cause of rare form of spinal muscular atrophy with lower extremity predominance. This disease affects nerve cells controlling muscles of the legs and has a good prognosis, although patients are moderately disabled.
Researchers found that low levels of plastin 3 are linked to movement problems in spinal muscular atrophy, a fatal genetic disorder. Adding plastin 3 back to motor neurons in zebrafish restored some swimming abilities and suggests that the protein's decrease contributes to the disease's characteristics.
Scientists discovered a drug called fasudil can extend the average lifespan of mice with Spinal muscular atrophy (SMA) from 30.5 days to over 300 days. Fasudil-treated SMA mice had larger muscle fibers and behaved more normally, but still showed low motor neuron numbers.
Researchers discovered that Fasudil increases the size of muscle fibers and their connection to motor neurons, improving the movement of SMA mice. This treatment bypasses the genetic cause of spinal muscular atrophy (SMA) by targeting the ROCK intracellular signaling pathway.
Researchers at University of Missouri have found that targeting synthetic RNA to a specific gene can significantly lower the severity of Spinal Muscular Atrophy in mice. The study shows promising results with improved motor skills and increased weight in affected animals.
A new study reveals that defects in peripheral tissues contribute to SMA pathology, and systemic antisense oligonucleotides (ASOs) increase survival time by 25-fold. ASO treatment also restores normal IGF-1 levels, which are reduced in untreated mice with severe SMA.
Researchers at the University of Missouri have identified a key communication breakdown between nerves and muscles that may lead to new treatments for spinal muscular atrophy (SMA) and other motor neuron diseases. The study found that nerve signals are disrupted before reaching muscle ends, which could inform targeted treatments.
Researchers aim to clarify the role of alpha-synuclein in spinal muscular atrophy (SMA), a genetic disease causing muscle weakness and degeneration. A better understanding of SNCA's role may lead to new therapies for SMA, potentially identifying useful disease markers and advancing neuromuscular disease research.
New data from two independent research groups provides hope that a therapeutic approach can be developed to treat SMA. Prolactin treatment increases SMN levels, improves muscle movement, and enhances survival in mouse models of severe SMA.
A study by Lukas Van Oudenhove and colleagues found that a fat solution to the stomach attenuates behavioral and nerve cell responses to sad emotion in humans. This discovery has implications for treating disorders such as obesity, eating disorders, and depression. Additionally, two independent research groups have generated new data o...
Researchers discover pregnancy hormone Prolactin activates copy gene SMN2, resulting in high production of SMN protein and extended lifespan in SMA mice. The treatment shows improved motor control, offering new hope for the deadly childhood disease.
Researchers have discovered a new protein, neuritin, that helps nerve fibers navigate towards muscles in zebrafish models of SMA. Artificially stimulating neuritin production improves axon branching and connection formation, leading to potential drug therapy options.
A new study reveals that early defects in sensory synapses contribute to motor neuron disease progression, suggesting therapeutic strategies targeting spinal synapses may slow or prevent disease progression.
The Muscular Dystrophy Association has awarded $1.4 million to Repligen to complete preclinical work and initiate human clinical trials of a promising therapeutic compound for spinal muscular atrophy (SMA). The grant will enable the company to move its lead compound, RG3039, into phase I trials in healthy volunteers and patients with SMA.
A new study has found prenatal cardiac defects in mice with Spinal Muscular Atrophy (SMA), a leading genetic cause of infantile death. The discovery has significant implications for treatment, suggesting that the disease may be multisystemic and requiring therapies beyond just motor neurons.
A $250,000 grant from the Sophia's Cure Foundation via the Pepsi Refresh Project will support SMA research and clinic development at Nationwide Children's Hospital. The grant will help Dr. Kaspar's team develop gene therapy methods for scalable production and purification to advance their program to clinical trials.
Researchers discovered significant structural changes and impaired left-ventricular function in the hearts of SMA mice, along with lower heart rates. Gene therapy approach showed promise in restoring heart rates and preventing dilated cardiomyopathy.
A study found that valproate reduces collagen production by almost 60% and osteonectin levels by 28% in SMA cells, contributing to bone loss in these patients.
Researchers have successfully reversed symptoms of Type III SMA in mice by introducing an ASO into their spinal cords, promoting efficient inclusion of a critical exon and increasing SMN protein production. The treatment persisted for half a year after administration and showed no toxicity or inflammation.
The University of Utah researchers are making significant progress in understanding and combating Spinal Muscular Atrophy (SMA), a genetic disease causing progressive muscle weakness. With the support of Families of SMA, they have established a clinical trials network to test novel therapies and advance treatment options for children a...
Researchers at the University of Sheffield have developed a novel gene transfer system that can restore SMN protein levels and alleviate symptoms in SMA model mice. The new technique has the potential to develop a simple injection therapy without surgical interventions, offering significant implications for future SMA treatment.
Scientists have developed technology to screen newborns for spinal muscular atrophy (SMA), a lethal disease caused by gene mutations. Effective screening may allow parents to access proactive treatments before symptoms become irreversible.
Researchers have found a promising new approach for developing treatments for Spinal muscular atrophy (SMA), a devastating inherited cause of death in infants and toddlers. Blocking the RhoA enzyme has been shown to greatly increase survival in mice with SMA, offering hope for new drug development.
A new gene therapy approach has shown promising results in treating spinal muscular atrophy (SMA) in mice by improving muscle strength, coordination, and locomotion. The treatment involves injecting the gene-carrying therapeutic directly into the brain and spinal cord of newborn mice.
A recent study found that prenatal screening for spinal muscular atrophy is not cost-effective due to high costs and limited benefits. The authors estimated that only 12,500 women need to be screened to prevent one case of the disease, which would require a significant investment.
Researchers used gene therapy to deliver a portion of DNA that makes the SMN protein into newborn mice, resulting in improved muscle coordination and longer survival. The treatment corrected motor function, restored nerve signals, and improved overall health in mice with spinal muscular atrophy.