Spinal muscular atrophy (SMA) is a genetic neuromuscular disease caused by loss of the SMN1 gene, leading to progressive loss of motor neurons and muscle weakness. The severity ranges from the most serious infant-onset form to milder adult forms, and three disease-modifying therapies approved in recent years have transformed outcomes especially when treatment begins early.
What's actually going on in research
Three therapies — nusinersen, onasemnogene abeparvovec, and risdiplam — are now approved and work by either replacing SMN protein or boosting a backup gene. Trials are testing next-generation gene therapies, combination approaches, and muscle-directed strategies to build on these gains. Research is also focused on treating older and more severely affected patients who responded less to early therapies, and on long-term outcomes after gene replacement.
Next-generation gene therapy
Refined adeno-associated virus gene replacement vectors are being tested to improve delivery and durability in patients who did not receive treatment as infants or who have larger body weights.
Combination SMN strategies
Pairing SMN-boosting drugs such as risdiplam with muscle-directed agents like myostatin inhibitors is being explored to address both motor neuron survival and muscle function simultaneously.
Long-term outcome studies
As the first wave of gene therapy recipients grows older, trials are tracking motor function, respiratory health, and quality of life over years to understand durability and late effects.
What to know before you search
Eligibility depends on SMA type, SMN2 copy number, age, prior treatment history, and current motor function.
What types of trials are currently open
- Gene therapy trials — Testing viral and non-viral approaches to replace or boost SMN protein production.
- SMN-enhancing drug trials — Evaluating small molecules and antisense drugs that increase SMN2 backup gene output.
- Muscle-directed trials — Testing myostatin inhibitors and other agents to strengthen muscles alongside SMN therapy.
- Newborn screening trials — Studying outcomes when SMA is detected and treated at birth before symptoms appear.
- Adult SMA trials — Evaluating treatments in milder adult-onset forms that respond differently to current therapies.
Recently added Spinal Muscular Atrophy trials
VRehab-SMA Phase 1.2
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.
Track your child's muscle development using a wearable device
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.
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