View clinical trials related to Spinal Muscular Atrophy Type I.
Filter by: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 purpose of this trial is to evaluate safety and efficacy of intravenous delivery of EXG001-307 as a treatment of spinal muscular atrophy Type 1 (SMN1).