View clinical trials related to Spinal Muscular Atrophy.
Filter by:Spinal Muscular Atrophy (SMA) is a rare neuromuscular condition, characterised by loss of motor neurons as a result of a mutation in the survival motor neuron gene. This results in muscle wasting and in the most common and severe type, death before 24 months. Over the recent years there has been a dynamic shift in the therapeutic options for these patients involving both approved therapies, including gene therapy, and access to clinical trials in genetic modifying. As a result of this mortality and morbidity have changed particularly for the SMA type 1 population and therefore there is now a changing phenotype with many children needing interventions at different time points compared to the natural history. This review process is a retrospective review from 1st July 2017 - 30th June 2022, when most of the new drug therapies were being introduced, of all the children aged from 0-16 years in the West Midlands region and their outcomes.
This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests. Another goal of the study is to assess the progression of the disease in patients identified through neonatal screening.
The primary objective of the clinical investigation is to demonstrate successful clinical use of the ThecaFlex DRx™ System in delivering nusinersen in subjects with spinal muscular atrophy (SMA). All enrolled subjects will undergo implantation of the investigational device (ThecaFlex DRx™ System) and will be followed for 12 months after receiving the implant. The 12-month data will be used to assess the primary endpoint support a Pre-Market Approval (PMA) application.
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 1 (SMA 1) patients.
The purpose of this study is to evaluate the efficacy, safety, tolerability and pharmacokinetics of NMD670 in the treatment of ambulatory adults with spinal muscular atrophy type 3
Major breakthroughs in the treatment for Spinal muscular atrophy (SMA) have been recently achieved with various therapeutic approaches that increase full-length SMN protein levels. The variability observed following the advent of commercial availability of Nusinersen for all types of SMA has highlighted the need to identify tools that may allow to predict possible therapeutic responses. The aim of this project is to establish whether an integrated approach using clinical, imaging (muscle MRI) and circulating biomarkers, can provide the possibility to develop a predictive model of therapeutic response to novel therapies for SMA patients. More specifically we wish to establish the correlation between clinical response, different biomarkers indicative of central nervous system efficacy (e.g. determination of neurofilaments levels), and markers that provide evidence of the skeletal muscle response (e.g. serum myostatin and muscle imaging) in different types of SMA
Spinal Muscular Atrophy (SMA) is caused by the homozygous loss of the Survival Motor Neuron (SMN) 1 gene, which leads to degeneration of spinal alpha-motor neurons and muscle atrophy. Three treatments have been approved for SMA but the available data show interpatient variability in therapy response and, to date, individual factors such as age or SMN2 copies,cannot fully explain this variance. The aim of this project is: - collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec, - identify novel biomarkers and RNA molecular signature profiling, - develop a predictive algorithm using artificial intelligence (AI) methodologies based on machine learning (ML), able to integrate clinical outcomes, patients' characteristics, and specific biomarkers. This effort will help to better stratify the SMA patients and to predict their therapeutic outcome, thus to address patients towards personalized therapies.
This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the 'new natural history' secondary to the availability of commercially available therapies. All the patients enrolled to date in the Italian registry, if not part of clinical trials, will be included in the present study.
The first cure for Spinal Muscular Atrophy (SMA; Nusinersen) has been approved by FDA in 2017. Although it improves the clinical picture of most SMA patients, not all exhibit the same response to treatment. In this project the aim will be: i. identifying cell-free SMN circular RNAs (circRNAs) in body fluids of SMA patients as potential biomarkers before and after Nusinersen; ii. evaluating their prognostic power as predictors of the clinical response of SMA patients to Nusinersen; iii. identifying human intronic polymorphisms that affect SMN circRNAs biogenesis and impact on the efficacy of Nusinersen. The results obtainable with this project will evaluate if different concentration of cell free SMN circRNAs in SMA patients could underlie the genotype-phenotype mismatch, usually observed, and the reduced response of a subset of SMA patients to therapy. Our research could highlight the need for these of combinatorial 'SMN-plus' and "personalized" therapies that account for individual differences.