What the trial was testing
The SPR1NT enrolled 30 patients with spinal muscular atrophy. The study was sponsored by Novartis Gene Therapies and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was a large trial designed to confirm whether the treatment works well enough for wider use. Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
All 15 babies treated before symptoms stood independently, and 14 walked on their own.
Nature medicine · 2022 · NCT03505099
These findings — that when treated before symptoms, nearly all babies reached normal walking milestones — were published in the Nature medicine and represent the headline result of the study.
Researchers tracked outcomes across 30 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with spinal muscular atrophy, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
This gene therapy is FDA-approved for children under 2 with spinal muscular atrophy. It's given as a one-time infusion. If your child has been diagnosed through newborn screening or genetic testing, ask your doctor whether this treatment is right for them.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open 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.
Fatigue and Skeletal Muscle Impact in Severe Axial Spondyloarthritis
Axial spondyloarthropathy (SpA) is the most common inflammatory rheumatism (1% of the general population) with important medico-economic consequences. Fatigue is a major feature of SA. It can be defined as a feeling of reduced muscle capacity, lack of energy and exhaustion. The fatigue reaches an abnormally high level (fatigue severity score (FSS) ≥4, called severe fatigue in this protocol) in more than two thirds of patients with SA. Skeletal muscle repercussions are present during SA. It is characterized by a decrease in exercise capacity independently of pain and ankylosis but is associated with a decrease in strength and muscle mass, the importance of which varies from one study to another. The link between fatigue (subjective sensation) and the skeletal muscular impact (objective) of SA has never been studied.