View clinical trials related to Muscular Atrophy, Spinal.
Filter by:Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive muscle atrophy and weakness, particularly in proximal and axial muscles. SMA causes respiratory muscle weakness, recurrent infections, and nocturnal hypoventilation, contributing significantly to morbidity and mortality. Children with SMA often display respiratory and trunk muscle weakness compared to healthy controls. Our project aims to investigate the impact of pulmonary rehabilitation, including inspiratory muscle training, along with trunk control exercises in children with SMA. The study will include 30 SMA patients aged 5-18, with maximum inspiratory capacity below 60 centimeters of water (cmH2O), predicted vital capacity over 25%, and the ability to sit unsupported for more than 5 seconds. The participants will be randomly assigned to two groups: Pulmonary Rehabilitation Group (Group 1, n=15) and Trunk Control Training Group (Group 2, n=15). Group 1 will undergo breathing exercises and inspiratory muscle training (IMT), involving diaphragmatic, pursed-lip, and segmental breathing. IMT will be administered with a portable device, starting at appropriate resistance and consisting of 10 cycles, 10 minutes each, once a day, with designated rest intervals. Also applied by calculating 30% of the maximal inspiratory pressure (MIP). During weekly clinic visits, the MIP value will be recalculated and the current threshold pressure value will be determined. In Group 2, alongside pulmonary rehabilitation, children will engage in trunk control exercises, progressively increasing in difficulty, focusing on pelvic control, proximal stabilization, and strengthening trunk and gluteal muscles. All interventions will be performed in front of a mirror. At the end of the 8-week intervention, MIP and Maximal Expiratory Pressure (MEP) will be used to measure respiratory muscle performance, spirometry will be used to monitor lung volume changes, and Peak Cough Flow will be used to evaluate the effectiveness of cough. The Trunk Control Measurement Scale, the Revised Upper Extremity Module, and the Children's Quality of Life Scale will assess trunk control, upper extremity functions, and quality of life, respectively. The Hammersmith Functional Motor Scale will assess gross motor functions and the Zarit Caregiver Burden Scale will inquire about familial factors affecting the child.
The goal of this pilot interventional study is to learn about the use of an in-home harness system in children who have been treated for spinal muscular atrophy. The main questions it aims to answer are: 1. Is the in-home body weight support harness system a feasible option for families to use? 2. Is the in-home body weight support harness system a useful tool for children treated for spinal muscular atrophy? 3. Is the in-home body weight support harness system a safe tool for children treated for spinal muscular atrophy? Participants will be given an in-home body weight support harness system and taught how to use it. Families will document how often and for how long they use the system over 6 months. Children will be given tests of motor function at the beginning, 3-months, and 6-months. At the end of the study, families will be asked to fill out a questionnaire about thier experience using the system.
The goal of this clinical trial is to study respiratory muscle training in patients with Spinal Muscular Atrophy (SMA). The main questions it aims to answer are: - Is a home-based individualized training program for the inspiratory and expiratory muscles feasible (good adherence and good acceptability)? - Can a home-based individualized training program for the inspiratory and expiratory muscles increase the strength of these muscles? Participants will be asked to perform 10 training sessions per week, spread out over 5-7 days. Each training session consists of 30 breathing cycles through the inspiratory muscle trainer and 30 breathing cycles trough the expiratory muscle trainer. In the first four months of the study researchers will compare two groups to see if a higher trainings load is more effective. One group will start at a trainings load of 10% of their maximal inspiratory and expiratory muscle strength. The other group will start at a trainings load of 30% of their maximal inspiratory and expiratory muscle strength. This group also need to adjust the trainings load based on their perceived exertion. After four months all participants will train on a trainings load of 30% of their maximal inspiratory and expiratory muscle strength and adjust the trainings load based on their perceived exertion. The participants will come to the hospital for lung function tests every four months for 12 months.
The ONYX study is an Open-Label, Multicenter, Extension study that will evaluate the long-term safety and efficacy of Apitegromab in Patients with Type 2 and Type 3 SMA who have completed TOPAZ or SAPPHIRE.
Risdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment. The schedule of assessments (SOAs) carry over seamlessly for the cohort from studies done while treated with nusinersen and continue to track the most informative outcomes from that trial (e.g. nine hole peg test and grip strength), while adding the Box and Block Test (BBT) as an additional measure of upper limb endurance and function.
The natural history of SMA patients has changed, due to the improvements in treatment and technological advances. The systematic collection of data from routine clinical practice in multiple Latin American countries, harmonized to an internationally aligned core data set, is important to advancing the understanding the natural history of disease in the region and the influence of different drug treatments on patient outcomes. These data are critical to improving the care of these patients. So far, clinical trials regarding therapeutic approaches for SMA patients only cover a subgroup of the broad spectrum of severity of SMA. Thus, there is a strong need to monitor the full range of treated and untreated SMA patients in a real-world context.The aim of this study is to set up a regional healthcare provider (HCP) entered registry. The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease, the use of DMTs and patients' outcomes, as well as to support further research projects and regional data generation.
This is an open-label, single arm, multi-center study. Approximately 28 participants aged 2 to <18 years will be enrolled stratified as 2 to 5 years and 6 to < 18 years. The study is comprised of 3 periods, Screening (up to 45 days), Treatment (1 day), and Follow-up (52 weeks).
This trial will study the efficacy and safety of taldefgrobep alfa as an adjunctive therapy for participants who are already taking a stable dose of nusinersen or risdiplam or have a history of onasemnogene abeparvovec-xioi, compared to placebo.
This Phase 3 trial (Study SRK-015-003) is being conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and are receiving an approved survival motor neuron (SMN) upregulator therapy (i.e., either nusinersen or risdiplam), to confirm the efficacy and safety of apitegromab as an adjunctive therapy to nusinersen and evaluate the efficacy and safety of apitegromab as an adjunctive therapy to risdiplam.
For children who use a power wheelchair, a powered wheelchair standing device (PWSD) may be considered for daily use. A PWSD allows a child to electronically move between sitting and standing and can be driven in either position. Existing published PWSD research in pediatrics is limited to boys with Duchenne muscular dystrophy (DMD).(1, 2) While these studies provide some insights into PWSD use in boys with DMD, they do not reflect PWSD use in children with other conditions. The purpose of this exploratory study is to determine the feasibility of a research protocol exploring use of a PWSD in children who have neurodevelopmental conditions other than DMD.