A zebrafish model was used to test the functional significance of rare SMN1 variants in children with false positive SMA diagnoses. The research found that both variants were functional and did not cause the disease. This breakthrough could prevent unnecessary SMA therapies and provide families with security.
Researchers developed a rapid zebrafish-based functional assay to determine the pathogenicity of novel SMN1 mutations, potentially informing urgent clinical decisions. The test showed that many previously uncertain variants were harmless, reducing distress for families and saving lives.
A new clinical trial has shown encouraging results for a muscle-targeting therapy that aims to improve motor function in children and adolescents with spinal muscular atrophy. The treatment, apitegromab, was found to be effective in enhancing muscle strength and function in patients with non-ambulatory type 2 or type 3 SMA.
A clinical trial shows that giving risdiplam to newborns as early as 16 days old is safe and effective in improving motor function and increasing survival rates. The treatment can delay or prevent disease progression and preserve strength, function, and quality of life from birth.
A UC San Francisco-led study found that delivering medicine for spinal muscular atrophy (SMA) via the amniotic fluid was safe and helped prevent damage to nerve cells. The therapy used molecules called antisense oligonucleotides (ASOs), which can alter gene expression, and was tested in mice and sheep with promising results.
Richard Finkel, MD, is named to TIME100 Health for his pioneering work in treating spinal muscular atrophy prenatally with the orally administered drug risdiplam. This breakthrough has shown promising results, with no identifiable features of SMA observed two years after treatment.
A pioneering study demonstrates the feasibility of treating SMA prenatally using risdiplam, a drug administered to an expectant mother during pregnancy. No identifiable features of SMA have been observed in a 2.5-year-old child, suggesting a promising outcome for future research.
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 found anomalies in embryonic development of individuals with spinal muscular atrophy (SMA), which could lead to new treatment options. These abnormalities were recreated in laboratory-grown tissue cultures called organoids, revealing key insights into the disease's progression.
A recent study has discovered a significant connection between Spinal Muscular Atrophy (SMA) and liver dysfunction, with fatty liver disease appearing in mild and severe forms of the condition. The research, published in the Journal of Clinical Investigation, suggests that SMA patients may face additional health problems over time.
A first-of-its-kind study compared preventative therapy efficacy between two groups: gene therapy alone and in combination with risdiplam or nusinersen. Dual therapy showed promise in independent sitting outcomes, but not in walking age or muscle disease progression prevention.
Researchers created a first-of-its-kind super minigene to study the Survival Motor Neuron 2 (SMN2) gene, which causes spinal muscular atrophy. The compact model allows scientists to see how changes play out across the entire gene expression process.
Researchers have discovered why some RNA-splicing drugs work better than others, revealing a key factor that impacts treatment efficacy. By analyzing the interactions between drugs and RNA, they found that combining splice-modifying drugs targeting the same gene segment can lead to greater therapeutic effects.
Researchers have identified a novel mechanism leading to motor neuron degeneration in SMA, which can be stopped by a Cdk5 inhibitor. This discovery offers a new treatment approach that could benefit all patients with SMA, including those ineligible for gene therapy.
A team of researchers has developed a promising gene-editing strategy for spinal muscular atrophy (SMA), a devastating pediatric neuromuscular disorder. The approach involves using CRISPR base editing to activate the SMN2 gene, which is similar to the mutated SMN1 gene responsible for SMA.
A novel workflow has been developed to identify patients with 5q-SMA, a common type of spinal muscular atrophy, more accurately. The new approach uses a bioinformatics pipeline that masks the paralogous regions of the SMN1 gene, allowing for more precise detection of genetic variants.
Researchers at Cold Spring Harbor Laboratory have developed a potential therapeutic for diffuse intrinsic pontine glioma (DIPG) using antisense oligonucleotide technology. The treatment has slowed tumor growth, reversed changes in cancer cells, and increased survival rates in mice with DIPG.
Researchers discovered that SMN deficiency harms neurons by impairing Hspa8 protein, which assembles critical communication links between motor neurons and muscle cells. A potential new treatment pathway for SMA was identified through mimicking the protective effect of a specific variant of the Hspa8 gene.
A study published in Journal of Neuromuscular Diseases demonstrates a positive effect of nusinersen treatment on motor function in ambulant pediatric and adult SMA patients. Clinically meaningful improvements in walking distance were observed in a subgroup of patients, with only five adult walkers showing a decline.
A new study published in The Lancet Child & Adolescent Health journal suggests that newborn screening for spinal muscular atrophy (SMA) can lead to better movement ability and independence in affected children. At two years post diagnosis, 11/14 children diagnosed by NBS were walking independently or with assistance.
Researchers at the University Hospital Bonn have discovered a new function of CRISPR/Cas9 gene scissors, which produce small signal molecules that bind to proteins, activating an emergency response. This discovery opens up new possibilities for treating diseases using CRISPR technology.
Researchers at Ohio State University have found a clear link between the survival motor neuron protein and age-related muscle decline in mice, which may lead to the development of new therapies for sarcopenia. The study suggests that increasing SMN protein production could be a viable approach to addressing this age-related condition.
A new study found that children with four copies of the SMN2 gene who received pre-symptomatic treatment showed no symptoms, while untreated patients developed irreversible symptoms. The researchers recommend encouraging early intervention in childhood for these patients to avoid potential deficits.
A collaborative study reveals how genes controlling blood vessel cells influence motor neuron development, allowing them to navigate the body's systems. The discovery sheds light on diseases such as ALS and SMA, where motor neuron connections are destroyed.
Researchers have discovered pairing Spinraza with valproic acid (VPA) can boost its therapeutic effects without increasing toxicity. This approach allows for improved SMN protein production in SMA patients, leading to longer survival and better muscle function.
A new study found that patients with spinal muscular atrophy (SMA) who were identified through newborn screening had lower financial costs compared to those identified after symptoms arose. Early treatment also resulted in reduced costs, highlighting the importance of timely intervention.
A Charité study confirms the efficacy of gene therapy in improving muscle function and reducing mortality in children with spinal muscular atrophy. The treatment, onasemnogene abeparvoven, was found to be effective in children under two years of age, offering a promising alternative to existing treatments.
Researchers published safety and efficacy data for a novel nusinersen drug delivery method via subcutaneous intrathecal catheter system (SIC) for spinal muscular atrophy (SMA) patients. The study found improvements in arm and hand function, but no significant changes in motor scales or muscle force.
Researchers at Boston Children's Hospital report positive results with risplidam, a small-molecule drug that treats SMA by correcting the root cause: a mutated gene. Infants receiving risplidam showed improvements in motor function and lived longer than expected.
Researchers developed new chemistry for antisense oligonucleotides to treat SMA, a debilitating genetic disease. The compounds demonstrate reduced toxicity and potential for longer-lasting treatment with fewer injections needed.
A new study expands evaluation of gene therapy for spinal muscular atrophy (SMA), a rare genetic neurodegenerative disease. Treatment with onasemnogene abeparvovec is associated with an immune response, but showed no long-term adverse effects.
Researchers have successfully visualized the entire complex for the first time, revealing its dynamic behavior and function. The model provides insight into the processes leading to spinal muscular atrophy, a congenital disease affecting one in 6,000 people.
A new study published in Pediatrics reports positive safety and early outcome data from 21 children with spinal muscular atrophy treated with gene therapy. The treatment, onasemnogene abeparvovec-xioi, is shown to be effective through age 2 years with proper screening and monitoring, but requires closer attention for potential liver is...
A new study suggests that early treatment can help prevent permanent nerve damage and improve recovery in children with less severe forms of spinal muscular atrophy (SMA). German researchers recommend early screening for SMA using newborn screening programs to identify children who may benefit from earlier treatment.
The Clinic for Special Children's SMA Prevention Readiness program successfully identified 318 carriers and 9 affected couples, treating 3 infants with gene therapy. The program's cascade testing approach was effective in detecting genetic risk, leveraging funding from biotech company AveXis.
Researchers at Karolinska Institutet have discovered a gene, Synaptotagmin 13, that protects against motor neuron degeneration in ALS and SMA. Gene therapy was shown to increase life expectancy in animal models.
A study published in the Journal of Neuromuscular Diseases found Nusinersen treatment improved motor and respiratory functions in adults with longstanding SMA3. Functional testing showed significant improvements on the 6-Minute-Walk-Test, with patients experiencing a mean improvement of 8.25 meters.
A doctor, who is also the father of a child with type 1 spinal muscular atrophy (SMA), offers a personal perspective on the benefits of the new treatment nusinersen. The medication has shown significant improvement in his son's condition, allowing him to regain motor skills and autonomy.
Laxman Gangwani's research project aims to explore the protective effects of senataxin on spinal muscular atrophy motor neurons. The goal is to identify potential therapeutic targets in humans if the research shows a positive role for senataxin in a mouse model of SMA.
A study found that a spinal muscular atrophy drug can improve motor function and stabilize disease activity in older children with the disease, even those with SMA type II and III. The treatment, nusinersen, increased protein production essential for motor neurons to survive.
Jin Yun Helen Chen, MS, CGC, was awarded the 2019 ACMG Foundation Lovell Genetic Counselor Award for her work on Phenotype Genotype Variability among Sibships with Spinal Muscular Atrophy. The award recognizes the critical contribution of genetic counselors to clinical genetics and newborn screening.
A natural history study provides the first comprehensive clinical description of spinal muscular atrophy (SMA) within Amish and Mennonite communities, correlating haplotypes and SMN2 copy number with disease severity. The study reveals differences in disease expression and survival between genotypes with varying numbers of SMN2 copies.
A study published in Neurology suggests that spinal muscular atrophy drug nusinersen may be effective for muscle control even when treatment is started in children seven months and older. The research found significant muscle control improvements in participants, including an 8-year-old child, with some able to sit up without support.
Researchers have developed a new subcutaneous intrathecal catheter system (SIC) to deliver nusinersen to SMA patients, significantly reducing hospital stays and costs. The SIC method allows for faster and more efficient administration of the drug, with an average hospital stay of less than 55 hours.
A new study published in the Journal of Neuromuscular Diseases found that early treatment with nusinersen can improve motor function in babies with SMA type 1. The research suggests that early diagnosis and initiation of treatment are crucial for patients with infantile-onset spinal muscular atrophy.
Researchers at Scripps Research Institute have discovered a potential new strategy to treat spinal muscular atrophy (SMA) in infants. By understanding how the drug RG-7916 targets RNA mis-splicing, scientists may be able to design more effective therapies for genetic diseases.
A preliminary study found an investigational drug, RG7916, to increase survival and function in babies with type 1 spinal muscular atrophy by up to 6.5 times the normal amount of SMN protein. The study, which is ongoing, aims to determine if this treatment will provide meaningful benefits for children with SMA.
An international team of neuroscientists has discovered a basic molecular mechanism that better understands Lou Gehrig's disease, or amyotrophic lateral sclerosis (ALS), by investigating how cells change. This research could lead to new therapies for the debilitating disease.
A new study published in the New England Journal of Medicine found that Spinraza significantly improves outcomes for children with spinal muscular atrophy type 2, who have not yet begun to walk. The drug also shows promise for reversing muscle weakness and improving mobility.
A clinical trial demonstrates the impact of nusinersen on older patients with spinal muscular atrophy (SMA), showing significant improvements in motor function scores. The study, known as CHERISH, enrolled 126 children aged 2-12 and found that 57% experienced an increase of at least three points in functioning scores.
Researchers Albert Descoteaux and Kessen Patten will study Leishmania's mechanisms to evade the immune system and spinal muscular atrophy, respectively. Their work aims to advance understanding of these diseases and uncover therapeutic targets.
Researchers provide foundational understanding of myostatin activation mechanism, shedding light on tolloid enzyme's role in generating active myostatin. The study's findings hold promise for developing novel therapies targeting specific structural states of myostatin.
The $125,000-per-dose cost of the drug nusinersen poses barriers for many patients with spinal muscular atrophy, who may not have access to it due to insurance restrictions. Early treatment is crucial for halting muscle degeneration, but unequal access to the medication raises ethical concerns about fairness and decision-making.
A study found that most people, including those without a prior connection to the condition, support newborn screening for spinal muscular atrophy. Key benefits cited include better healthcare and life expectancy for affected infants, as well as informed decision-making for future pregnancies.
A clinical trial shows that nusinersen, a new medication, is 'transformative' for babies with spinal muscular atrophy, enabling them to show gains in motor function and increasing their chances of survival. The treatment was approved by the FDA for all patients with this progressive neuromuscular disorder.
A Phase 1 clinical trial has demonstrated encouraging data for gene replacement therapy in patients with spinal muscular atrophy type 1 (SMA1). The study found that high-dose gene therapy improved motor function and reduced the need for supportive care in patients treated with a single intravenous infusion.
A study in mice suggests that abnormalities in sensory synapses may contribute to the disease, and increasing their activity can alleviate symptoms. The findings also indicate that targeting these synapses could be a new approach for treating spinal muscular atrophy.
Researchers have made progress in understanding how genetic mutations cause spinal muscular atrophy (SMA), a disease that cripples motor neuron function and leads to muscle weakness. A new discovery identifies the Gemin3 protein as a key player in the mechanism, and suggests targeting its receptors may be beneficial for treating SMA.
Researchers found that the SMN protein acts as a 'molecular chaperone,' helping RNA transport into cells and promoting interactions with processing proteins. This discovery sheds light on SMA's causes and could inform optimization of treatments like nusinersen.
Researchers identified a new biological target for treating spinal muscular atrophy by boosting an experimental medicine with Nusinersen. In mouse studies, the combination therapy improved survival time, body weight, and motor movements, suggesting potential benefits for people with the disease.