View clinical trials related to Muscular Atrophy, Spinal.
Filter by:The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 2 (SMA 2) patients.
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation. The main problems are posture disorders, scoliosis, pelvic curvature, contracture, hip dislocation, foot and chest deformities. In this study, examining the effectiveness of trunk support used to alleviate the progression of scoliosis in children diagnosed with SMA Type I will contribute to the current literature.In addition to Individualized Trunk Exercises (ITE), Individualized Pulmonary Rehabilitation (IPR) and Chest Care (CC) Programme, the use of thoracolumbosacral spinal orthosis in Type I children will be used for the first time in our country and in the world literature. SMA. Our aim in the project is to examine the effectiveness of this treatment program on the motor functions, scoliosis Cobb angle, pelvic curvature and chest deformity of children with Type I SMA.The project is planned to be carried out with children diagnosed with Type I SMA who are followed up at Medipol Mega University Hospital Pediatric Chest Diseases Polyclinic.In evaluating the development of scoliosis as the primary outcome measure; Radiological evaluation (Cobb Angle) and examination of chest deformity; Lung X-ray (Basal Chest Wall Upper-Lower Ratio Measurement) will be used. As secondary outcome measures, the Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders and the Hammersmith Functional Motor Scale Expanded were used to assess motor functions and examine the level of motor development; In the World Health Organization Motor Development Scale body posture assessment; Supine Trunk Rotation Angle Test and Pelvic Curvature Test, pulse oximetry to assess oxygenation; In determining the level of satisfaction with orthosis use; Children/families' information will be questioned through the Quebec Assistive Technology User Satisfaction Evaluation Survey and Personal Information Form.The active control group will receive the ITE, IPR and CC program as a home program and once a week in the outpatient clinic for 8 weeks, 7 days a week, once a day, each session being 50-60 minutes. In the ITE-IPR-CC + spine orthosis group, in addition to the control group program, a thoracolumbosacral spine orthosis specially designed for the child will be used every day of the week and 8 hours a day for 8 weeks. Evaluations will be made at baseline and at week 8.
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.
This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered in pediatric participants with SMA and 2 SMN2 copies who previously received onasemnogene abeparvovec and experience a plateau or decline in function. Participants to be enrolled are children <2 years of age genetically diagnosed with SMA.
This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered as an early intervention in pediatric participants with spinal muscular atrophy (SMA) and 2 SMN2 copies who have previously received onasemnogene abeparvovec. Participants are children < 2 years of age genetically diagnosed with SMA.
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.
This study will evaluate the pharmacokinetics (PK) and safety of risdiplam in participants with spinal muscular atrophy (SMA) under 20 days of age at first dose.
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
The primary objectives of the study are to prospectively evaluate pregnancy complications and outcomes in participants with SMA, birth outcomes and adverse effects in infants born to participants with SMA, who were exposed to nusinersen up to 14 months prior to the first day of their last menstrual period (LMP) before conception, 14.5 months before the date of conception, and/or at any time during their pregnancy. The secondary objective of the study is to evaluate pregnancy outcomes in participants with SMA exposed to nusinersen as compared with participants without SMA who were not exposed to nusinersen (e.g., participants from external, general population comparators).
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