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Muscular Atrophy, Spinal clinical trials

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NCT ID: NCT06321965 Not yet recruiting - Clinical trials for Spinal Muscular Atrophy

Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy

PHENO SMART
Start date: April 1, 2024
Phase: N/A
Study type: Interventional

With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years. The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.

NCT ID: NCT06315673 Not yet recruiting - Clinical trials for Amyotrophic Lateral Sclerosis

Digital Assessment of Speech and Fine Motor Control in ALS

Start date: April 1, 2024
Phase:
Study type: Observational

This is a single-session, case-control study that incorporates digital tools for assessing speech and motor function in motor neuron disease. Patients with motor neuron disease (including amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), and progressive muscular atrophy (PMA)) and age-matched healthy controls will be enrolled. Subjects will complete a speech and handwriting assessment during the study visit on a tablet computer (BioSensics LLC, Newton, MA). We will explore whether these digital biomarkers are sensitive to functional disease severity as reported by the ALS Functional Rating Scale - Revised (ALFRS-R) [1]. We will also compare assessment data between the patient and control groups.

NCT ID: NCT06310421 Recruiting - Clinical trials for Spinal Muscular Atrophy

Spinal Muscular Atrophy Neonatal Screening Program

Start date: October 16, 2023
Phase:
Study type: Observational

Spinal muscular atrophy (SMA) is a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons. Almost all cases are genetically determined. Most SMAs are autosomal recessive diseases, caused by homozygous deletions of the survival motor neuron (SMN) gene located on the long arm of chromosome 5. The estimated incidence of recessive childhood and juvenile SMA linked to deletion of the SMN gene is 1 in 6000 to 10000 live births, with a carrier frequency of 1 in 35 in the general population, making it a major genetic cause of infant mortality. Up to 95-97% of all childhood cases are due to homozygous deletions of the survival motor neuron 1 (SMN1) gene, or telomeric SMN, located on chromosome 5q11.2-13.3. The remaining 3-5% of cases are due to small mutations in SMN1 (rather than complete deletions). Until a few years ago, the prognosis of type 1 SMA was poor. In the absence of therapies, the only measures were supportive (ventilation, nutrition) and the prospect, especially in the early forms, was to accompany them towards an early end of life. There are currently three treatment options available: nusinersen, risdiplam, and gene therapy with onasemnogene abeparvovec. The three options were found to be equally effective in reducing the symptoms of the disease, making it possible to reach or safeguard fundamental stages in a child's neuromotor development, starting from the ability to remain seated. At this moment, gene therapy is probably the preferred choice. To date, in Italy, there are approximately 100 patients undergoing gene therapy. To ensure maximum benefit for affected patients, it is essential that the therapy is administered as soon as possible. Literature shows how the administration of gene therapy in pre-symptomatic subjects made it possible to achieve a better neurological outcome compared to symptomatic patients. From this perspective, the inclusion of spinal muscular atrophy in neonatal screening is of fundamental relevance.

NCT ID: NCT06300996 Not yet recruiting - Clinical trials for Spinal Muscular Atrophy

Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb

Start date: March 13, 2024
Phase: N/A
Study type: Interventional

Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical inputs. This pilot will test if SCS can show evidence to improve motor deficits in people with Type 2, 3, or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 2, 3, or 4 SMA aged 16 or older that show quantifiable motor deficits of the upper body. The investigators will then implant the subjects with percutaneous, linear spinal leads near the cervical spinal cord for a period of up to 29 days. Although these leads are not optimized for motor function but rather for their clinically approved indication of treating pain, the investigators believe they provide a safe technology enabling our team to perform scientific measurement necessary to evaluate potential for effects of SCS in motor paralysis with SMA. After the end of the study, the leads will be explanted.

NCT ID: NCT06288230 Not yet recruiting - Clinical trials for Spinal Muscular Atrophy

An Open Label Study of Gene Therapy Product in Spinal Muscular Atrophy Patients

Start date: March 1, 2024
Phase: Phase 1/Phase 2
Study type: Interventional

This is an interventional study to evaluate safety and efficacy of AAV-hSMN1 in spinal muscular atrophy patients.

NCT ID: NCT06194539 Recruiting - Fertility Issues Clinical Trials

Assessing the Fertility Status of Men With Spinal Muscular Atrophy (SMA)

Start date: February 2024
Phase:
Study type: Observational

This study will aim to assess the fertility status of men with Spinal Muscular Atrophy (SMA) not on disease-modifying therapies. Participants will: 1. Complete online questionnaires that will assess SMA diagnosis and disease burden, medical and surgical history, medication usage, and fertility status and perspectives. 2. Over the 3-month initial study baseline period participants will provide two separate ejaculates for semen analysis and a single determination of sperm quality using DNA fragmentation testing using home collection and subsequent shipment to a central laboratory. 3. Over the initial study baseline period of 3 months study participants will obtain a blood test to determine male reproductive hormone levels. During the 24-month study duration, participants will be requested to undergo a yearly semen analysis and complete online relevant questionnaires.

NCT ID: NCT06191354 Recruiting - Clinical trials for Spinal Muscular Atrophy 1

A Clinical Study Evaluating the Safety and Efficacy of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1

Start date: June 25, 2023
Phase: N/A
Study type: Interventional

This is a clinical study to evaluate the safety and efficacy of gene therapy drug SKG0201 Injection in patients with spinal muscular atrophy Type 1 (SMA 1).

NCT ID: NCT06178653 Active, not recruiting - Clinical trials for Muscular Atrophy, Spinal

Two Different Treatment Modalities in Patients With Spinal Muscular Atrophy

Start date: December 1, 2023
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT06178393 Completed - Clinical trials for Spinal Muscular Atrophy

Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States

Start date: May 5, 2022
Phase:
Study type: Observational

This global, retrospective, non-interventional, medical chart review (MCR), descriptive study collected patient-level data in regions outside the US. The study required a repeated data collection at follow-up dates from start of treatment with nusinersen, onasemnogene abeparvovec-xioi (OA), and/or risdiplam. At the start of data collection, the study team reached out to the health care providers (HCPs) involved in treating pediatric SMA patients for participating in this study. The physicians across the participating countries conducted a retrospective MCR of pediatric patients diagnosed with SMA who were treated with at least 1of the 3 novel disease-modifying treatments (DMTs): nusinersen, OA, and/or risdiplam. All health care encounters data i.e., emergency and inpatient admissions, surgery, and outpatient consultations of recruited patients, including their treatment with nusinersen, OA, and/or risdiplam, were abstracted to understand the treatment patterns as per routine clinical practice for SMA management globally. The first date of initial administration of 1 of the 3 target drugs was used as the "index date." Based on this, the record abstraction was performed through a retrospective MCR during the pre-index period, at index date and in the post-index period.

NCT ID: NCT06167954 Recruiting - Cerebral Palsy Clinical Trials

Safety and Usability of a Robotic Gait Device for Children and Adolescents With Neurological or Neuromuscular Disease in Their Natural Environment

Start date: December 4, 2023
Phase: N/A
Study type: Interventional

The goal of this clinical trial is to analyze the usability and safety of the robotic gait device EXPLORER in children with cerebral palsy, acquired brain injury and spinal muscular atrophy. Participants will use the exoskeletons in their home and the community and variables regarding safety and usability will be measured and recorded.