Spinal Muscular Atrophy Sma

Spinal muscular atrophy is a genetic disorder characterized by progressive muscle weakness, severely impacting patients' motor abilities. Several disease modifying therapies have been developed to treat Spinal muscular atrophy which have led to new disease trajectories . According to standard of care guidelines, exercise programs should be designed and monitored by a physical therapist and should include exercises to improve daily life activities. Exercises should be adapted to each patient and can be prescribed with an optimal frequency in various ways. However, of patients with Spinal muscular atrophy, only 20% reported access to endurance exercises and only 6% to mixed exercises. This incompliance to standard of care guidelines is due to manpower limitation and difficulties in engaging with young and sometimes highly disabled children. Our group has been pioneering in developing the UK at-home individualised rehabilitation program. To address this challenge, the Investigators propose the development of an innovative, virtual targeted rehabilitation platform specifically designed for young patients with Spinal muscular atrophy. This technology aims to provide a patient-centric, at-home rehabilitation solution, enabling parents/caregivers to facilitate daily exercises in a more accessible and enjoyable manner. This technology would constitute the first of its kind in Spinal muscular atrophy field, involving the integration of augmented electromyography signals and soft robotic haptic devices into a gamified virtual reality environment. By increasing the frequency and quality of exercise interventions at home, this technology has the potential to significantly address the critical unmet need for consistent rehabilitation. This technology will also serve as a clinical outcome measure for continuous home-based assessments of weaker and less functional population in place of hospital-based assessments.

This study aims to find the correct dose of ARGX-119 for children with SMA. The study will also look at how safe the study drug is, how well it works, how it moves through the body, and how the immune system responds to it. The study consists of a double-blinded treatment period (DBTP) where participants will either receive ARGX-119 IV or placebo IV, in addition to disease-modifying therapy (DMT) for 24 weeks. Participants who complete the DBTP will enter the open-label active-treatment extension period (ATEP) during which all participants will receive ARGX-119 IV up to 100 weeks (approximately 2 years).

In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge. The proliferation of clinical trials has created a need to identify biomarkers that are both sensitive to changes and specific to the disease. Current gait tests only consider the time factor and not the evolution of the patient's biomechanics, which may prove insufficient for patients whose symptoms generally progress slowly. Quantifying gait parameters in neuromuscular patients therefore appears necessary. This is why we propose to study markerless gait analysis in this population, which would allow for simple and effective monitoring of kinematic parameters without resorting to complex equipment incompatible with routine clinical practice.

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.

This single-arm pilot study will assess the preliminary effectiveness of an intensive motor skill intervention (HABIT-ILE) combined with functional strength training (FST) in children with SMA who are receiving disease-modifying therapies. Participants will attend a HABIT-ILE + FST summer camp for 6 hours per day over a 3-week period, totaling 90 hours of training.

The goal of this clinical trial is to learn if providing a multicomponent intervention improves the confidence of caregivers of children with DMD or SMA. The main question it aims to answer is: Does this intervention increase their self-efficacy scores over 8 weeks time? Researchers will compare scores at baseline (pre intervention) and after 8 weeks (post intervention)

This is a global, prospective, multi-center study that is designed to assess the long-term safety and efficacy of OAV101 in patients who participated in an OAV101 clinical trial. The assessments of safety and efficacy in Study COAV101A12308 will continue for 5 years after enrollment in this study.

This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases. Furthermore, the investigators want to evaluate the feasibility of collecting physical activity in daily life conditions during a one-week monitoring period using a wearable sensor.

Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.

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.

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.

The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Participants are remotely recruited, and all procedures, including consent, questionnaires, and follow-up visits, are conducted by phone or video conferencing without any hospital visits. Children will use age-appropriate wearable devices at home: MAIJU®, a sensorized garment for non-ambulant infants, and Syde®, an ankle-worn sensor for ambulant children. Data collection includes digital motor endpoints, clinical information, and quality of life (PedsQL). Primary objectives are to validate digital biomarkers of motor development, while secondary objectives include early identification of motor deficits, modeling motor trajectories, and quantifying genotype-related differences. Exploratory analyses will assess gait parameters such as stride velocity 95th centile (SV95C) and compare motor outcomes across genetic profiles and treatment exposure. Risks are minimal, limited to the use of non-invasive sensors with no known side effects.

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.

The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with neuromuscular disorder. The main questions it aims to answer are: * What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder? * Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: * Receive education on how to wear and use the shoulder orthosis. * Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare neuromuscular disorder patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.

The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period. Currently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation. The PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation. This research is justified by two main needs: * to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations; * to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs. The overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support. Study objectives : * Compare parental experiences according to the nature of the result (with or without treatment indication). * Identify psychosocial support needs, including for siblings. * Assess anxiety, depression, and post-traumatic symptoms associated with NGS. * Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.

There is a general physiological rule that any organ or system needs some minimal amount of activity to prevent its atrophy or degeneration. Although the relevance of that rule to exercises in neuromuscular patients and for SMA in particular is not definitely proven, clinical observations seem to support this assumption. Also there are several experimental studies which provide additional support for utility of exercise for SMA. However, making regular exercises may be very challenging with SMA not only due to physical limitations, but due to psychological either. While being considered as safe and well tolerated intervention, TMS is able to mimic effects of real physical exercises, at least at the level of low motoneuron, it also provides several advantages. For example, possibility to exercise non-collaborative infants, minimization of psychological motivation impact in adults and/or ability to involve very weak muscle groups.

Adult SMA REACH is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche. Currently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug - Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA).

Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.

The goal of this multicenter, open-label, non-comparative, cohort study is to investigate the safety, immunogenicity, and efficacy of ANB-004 in children with spinal muscular atrophy. The study will have a standard 3+3 dose-escalation design.