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NCT05794139
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
NCT07596277
Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function-affecting swallowing, feeding, speech, and airway protection. Historically, bulbar decline contributed significantly to early morbidity and mortality. The advent of disease-modifying therapies (DMTs) such as nusinersen, zolgensma and risdiplam (also known as Spinraza, Zolgensma, and Evrysdi) sinersinhas altered the clinical course of SMA Type 1, with emerging evidence of motor improvement and increased survival. However, the impact of these therapies on bulbar function remains poorly understood, and standardised tools for its assessment are lacking. Qualitative research which uses interviews with parents and carers offers an opportunity to capture nuanced caregiver perspectives, identify meaningful functional outcomes, and explore daily lived experiences in a way quantitative tools currently cannot. This study will investigate the lived experiences of families managing feeding and communication in children with SMA Type 1. The research will also aim to 1 Identify emotional, social issues experienced by families and practical support needs related to feeding and communication. 2\. Provide insights that can inform healthcare interventions and support
NCT07530926
Spinal muscular atrophy (SMA) is a genetic disorder that is known to cause damage to specialised nerve cells, called motor neurons. These neurons are located in the spinal cord and transfer signals from the brain to muscles to allow movement. A lack of nerve signalling leads to progressive muscle weakness and wasting, which affects a person' mobility, breathing and swallowing. Treatments have only recently been developed and there are now three commercially available drugs for SMA. These drugs improve survival and mobility of patients with SMA. Patients are surviving longer but other problems apart from muscle weakness have been found in patients with SMA that may be related to SMA. One of the additional problems in SMA investigators have noted is poor bone health. Investigators observed low impact fractures, vertebral fractures, and reduce bone density from a very early age in our cohort. Investigators however do not know if this is related to reduced mobility and subsequent loss of muscle loading of bone in SMA or if this is a direct effect of reduced Survival Motor Neuron (SMN) protein. The natural history of bone health in SMA patients is not well described. Investigators also do not know if the drugs used to treat SMA improves bone health. The additional need of high dose steroids in patients receiving onasemnogene abeparvovec (OA) may also reduce bone health in those receiving this therapy. There are also no licensed treatments for the management of fragile bones (osteoporosis) in children or guidelines or consensus on management of osteoporosis or fractures in SMA. Investigators want to study the bone health in paediatric patients with SMA in UK by looking at the incidence and type of fractures and comparing this in the different drug therapy groups against those who do not receive a SMA drug, assess impact of duration of steroid use and bone health in those that received onasemnogene aberparvovec, and to determine what needs to be measured and recorded to assess bone health most effectively in SMA. To do this investigators will be utilising data collected nationally through the SMA REACH UK network already and study medical records on data that is felt important but not collected by the SMA REACH UK database. Investigators are only planning to review existing information - no additional tests will be performed.
NCT07444476
In this study, researchers will learn more about the effects and safety of BIIB115, also known as salanersen. Specifically, researchers will learn more about how salanersen works in individuals with SMA who are between the ages of 15 and 60 years old. In most people living with SMA, changes to or a lack of a gene called survival motor neuron 1 (SMN1) - often referred to as gene mutations or variants - affect how this gene works. As a result, their bodies produce less SMN protein. Without enough of this protein, motor neurons and muscles cannot work properly. There is a similar gene called SMN2 that produces SMN protein, but it usually does not produce enough SMN protein on its own to make up for the changes in the SMN1 gene. Salanersen is a drug designed to help the SMN2 gene to make more working SMN protein. In this study, there will be 2 groups of participants: a group who has never received treatment for SMA before joining this study, and a group who has been treated with risdiplam, an approved drug for SMA . Those participants must not have received any other SMA treatments before and will need to stop their risdiplam treatment for the duration of the study. The main goal of this study is to learn more about how salanersen affects the participants' motor function. Researchers will use different tests and questionnaires to learn if motor function is changing over the study duration. The main question researchers want to answer in this study is: • For the group who has never been treated for SMA, how much do scores on the HFMSE movement test change at 12 months compared to the beginning of the study? The Hammersmith Functional Motor Scale - Expanded (HFMSE) has 33 activities that are scored which include sitting, lying down, walking, jumping, and more. Researchers will also learn more about: * The effects on participants' motor function and how well their nerves and muscles function. * The effects on participants' overall sense of change and how they perform daily activities. * How many participants have adverse events or serious adverse events. Adverse events are health problems that may or may not be caused by the study drug. * How much salanersen gets into the fluid surrounding the brain and spinal cord. * How much salanersen gets into the blood. This study will be done as follows: * First, participants will be screened to check if they can join the study. The screening period may be up to 4 weeks. * This is an "open-label" study. This is a study in which the participants, study doctor, and site staff will know that participants are receiving salanersen. * All participants will receive salanersen through an intrathecal injection, or one that is given into the fluid surrounding the brain and spinal cord. * Participants will receive salanersen once every year for a total of 5 times throughout the study. * Including screening, participants will have 17 study visits and 9 telephone calls during this study, which will last up to 61 months in total.
NCT07543003
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth. Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle. The investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU). They will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device. Active-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.
NCT05866419
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.
NCT06839469
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
NCT05430113
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 3 or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 3 or 4 SMA aged 16 or older that show quantifiable motor deficits of the legs but are able to stand independently. The investigators will then implant the subjects with percutaneous, bilateral, linear spinal leads near the lumbar 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.
NCT05115110
Risdiplam works by helping the body produce more survival motor neuron (SMN) protein throughout the body. This means fewer motor neurons - nerve cells that pass impulses from nerves to muscles to cause movement - are lost, which may improve how well muscles work in people with SMA. RO7204239 is an investigational anti-myostatin antibody that is designed to target myostatin. Myostatin plays an important role in the regulation of skeletal muscle size by controlling growth. Inhibiting myostatin may help muscles grow in size and strength. RO7204239 in combination with risdiplam, which is designed to increase the amount of SMN protein throughout the body, has the potential to further improve motor function and clinical outcomes for people living with SMA. This trial will study the safety and efficacy of RO7204239 in combination with risdiplam in patients with spinal muscular atrophy (SMA). The trial has two parts; Part 1 is the dose-finding part in SMA patients that are either ambulant (aged 2-10 years) or non-ambulant (aged 5-10 years) within separate cohorts, and Part 2 is the pivotal part in SMA patients aged 2-25 years that are ambulant.
NCT06955897
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.
NCT06321965
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.
NCT03505099
To evaluate the safety and efficacy of intravenous onasemnogene abeparvovec-xioi in pre-symptomatic patients with SMA and 2 or 3 copies SMN2
NCT03306277
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
NCT05156320
This Phase 3 trial (Study SRK-015-003) was 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 were 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.
NCT07223489
Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.
NCT07336602
This study investigates whether Equine-Assisted Physiotherapy based on Neuro-proprioceptive "Facilitation and Inhibition" (NEUROEQUIP-SMA) can improve movement, posture, breathing, and quality of life in children with spinal muscular atrophy (SMA). This therapy uses the horse's rhythmic movement together with targeted sensory and manual stimulation to trigger natural motor reactions starting from the pelvis, lower the threshold for muscle activation, and support coordinated motor patterns. The study compares this method with standard individual physiotherapy based on the same neuro-proprioceptive facilitation and inhibition principles, but performed without the horse. Twenty children aged 2 to 9 years will receive both therapies in two separate 6-day blocks, in random order (crossover design). The researchers will assess muscle fatigue, coordination, breathing function, movement quality and quantity, quality of life, and changes in selected blood biomarkers. The results may help develop better rehabilitation strategies for children with SMA who are receiving modern pharmacological or gene therapy.
NCT07332702
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling. This study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.
NCT04773470
The major aim of this project is to assess comprehensively frequency and extent of dysphagia and bulbar dysfunction in SMA1, 2, and 3 patients by applying FEES and validated dysphagia scores. Further aims are to follow changes of dysphagia over time in newly diagnosed patients, and in subjects starting treatment with one of the new therapeutic SMA drugs. Special attention will be paid to subjects treated with Risdiplam. If applicable, the data will be compared between groups receiving different drugs.
NCT07265232
The study objective is to determine the real-world safety and effectiveness of Vesemnogene lantuparvovec for the treatment of SMA. The specific objectives are: * To determine clinical effectiveness of Vesemnogene lantuparvovec therapy for SMA as evaluated by developmental gross motor milestone and survival. * To describe the safety profile of Vesemnogene therapy for SMA as evaluated by adverse events reporting and laboratory tests, and monitoring of Adverse events of special interest.
NCT06152302
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death. With emerging therapies, a need arises to enhance motor function assessment in severely hypotonic infants (SMA type 1) as traditional scales on examination tables lack completeness due to gravity's influence. The study team has developed a "bath test" to observe infants' motor skills in water, eliminating gravity's effects. This test aims to detect subtle movements using inertial sensors, potentially revealing more active motor neurons in aquatic conditions. It aids in identifying infants with motor improvement potential, even if they show limited mobility outside water, and tracks disease progression and therapy responses. Presently, pediatric neurologists in France use parent-provided bathing videos for evaluations, but these lack standardization and precision. The study aims to establish a standardized evaluation protocol with quantifiable data. The study's key objective is to evaluate severely hypotonic SMA infants using inertial sensors, including accelerometers, gyrometers, and magnetometers. The study will conduct "dry" and "water" assessments using a specially designed bathtub. This method's goal is to quantify water-based movements accurately. Simultaneously, the study seeks to establish semi-quantitative evaluation criteria to create a clinical assessment scale for infant motor function in bathtubs. This scale will aid doctors in therapeutic decisions. The study will not influence the treatment or therapeutic decisions made for the children being tested. Collected data from "dry" and "water" conditions will be statistically analyzed and compared to reference motor assessment scales (e.g., CHOP INTEND and HINE) and electromyography (CMAP-EMG) results, commonly used in diagnosis and monitoring. Blurred video recordings will assist in protocol monitoring and sensor data analysis.