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235 results for “spinal muscular atrophy”
Quantitative Cervical Cord MRI in Spinal Muscular Atrophy: a sensitive imaging biomarker of Disease Evolution and Treatment
<p>Background Nusinersen is a promising therapy for spinal muscular atrophy (SMA), a rare disease characterized by the degeneration of alpha motor neurons in the spinal cord (SC), leading to progressive muscle atrophy and paralysis. This study aimed to validate cervical SC MRI as an imaging biomarker for assessing SMA severity, progression, and response to nusinersen treatment.</p> <p>Methods Five pediatric patients and three adult patients with SMA underwent clinical assessment and SC MRI at multiple time points during treatment with nusinersen. Total cord area (TCA), grey matter area (GMarea), and magnetization transfer saturation (MTsat) were measured at cervical SC levels.</p> <p>Results In pediatric patients, TCA increased significantly at all cervical levels during the observation period (C4-C5, p<0.001), whereas GMarea showed a significant increase only at the C3-C4 level (p=0.043). TCA was found to correlate with motor scales, particularly with measures of upper limb motor function.<span> </span>Pediatric patients demonstrated higher TCA values compared to the SC growth rates reported in healthy controls in the literature, especially during the early part of the observation period. GM MTsat values correlated with clinical scores. In adults, TCA and GMarea strongly correlated with clinical measures.</p> <p>Conclusion This study demonstrates that nusinersen has a positive effect on both adult and pediatric patients, with more pronounced effects in the latter, improving motor function and SC growth. SC MRI metrics reflect disease severity and correlate strongly with clinical scales, providing a valuable imaging marker for monitoring treatment response in SMA and evaluating emerging therapies.</p>
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
ClinicalTrials.gov study NCT07208903. IPD Sharing: NO. Countries: 0. Publications: 0.
Reliability and Validity of the ACTIVE-mini for Quantifying Movement in Infants With Spinal Muscular Atrophy
ClinicalTrials.gov study NCT03808233. IPD Sharing: NO. Countries: 0. Publications: 0.
Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
ClinicalTrials.gov study NCT02466529. IPD Sharing: NO. Countries: 0. Publications: 0.
Spinal Muscular Atrophy and Cardiac Autonomic Function
ClinicalTrials.gov study NCT01522079. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe)
ClinicalTrials.gov study NCT01611610. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With Type 1) Spinal Muscular Atrophy (SMA)
ClinicalTrials.gov study NCT02865109. IPD Sharing: Not stated. Countries: 3. Publications: 0.
MiR34 Contributes to Spinal Muscular Atrophy and AAV9-mediated Delivery of MiR34a Ameliorates the Motor Deficits in SMA Mice
GEO Series GSE228244. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Bioenergetics status determines motor neuron vulnerability in spinal muscular atrophy
GEO Series GSE86908. Mus musculus. 9 samples. Type: Expression profiling by array.
Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs
GEO Series GSE65470. Homo sapiens. 8 samples. Type: Expression profiling by array.
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
GEO Series GSE167762. Homo sapiens. 28 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Other; Expression profiling by high throughput sequencing.
EAP of Apitegromab for Patients With Spinal Muscular Atrophy
ClinicalTrials.gov study NCT06877689. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Gene Expression Analysis of spinal cord obtained from a mouse model of severe Spinal Muscular Atrophy (SMA)
GEO Series GSE19674. Mus musculus. 12 samples. Type: Expression profiling by array.
Evaluation of body composition as a potential biomarker in spinal muscular atrophy
<p><strong>Introduction: </strong>We aimed to investigate the correlation between body composition (BC) and spinal muscular atrophy (SMA)-specific motor function assessments.</p> <p><strong>Methods: </strong>Patients with SMA types I or II, aged 1 to 10 years, were recruited in this cross-sectional study. The protocol included anthropometric measurements, and dual-energy X-ray absoprtiometry to assess fat mass (FM), lean mass (LM), fat-free mass (FFM), FM and FFM indexes (FMI, FFMI), and motor function assessments (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scale for SMAI, and Hammersmith Functional Motor Scale-Expanded for SMAII).</p> <p><strong>Results: </strong>Eighty-eight children were included. All had a higher FM percentage than reference values. Motor function was moderately correlated with body mass index (BMI), FFMI, and LMI in SMAI, and weakly correlated with FFMI, LMI, and LM:FM ratio in SMAII.</p> <p><strong>Discussion: </strong>BC shows promise as a potential biomarker for SMA, but further studies are needed.</p> <p> </p>
dataset relate to article "Adults with spinal muscular atrophy a large-scale natural history study shows gender effect on disease"
<p>Dataset contains clinical anonymized data of patients involved in study mentioned at title</p>
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