Despite recent treatment advances, feeding difficulties are still one of the most common complications for infants with spinal muscular atrophy (SMA) type 1, an observational study has found. The study, “Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational…
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A planned six-month interim analysis of a Phase 2 study of SRK-015 in children and adults with spinal muscular atrophy (SMA) will be delayed by about three months due to the COVID-19 pandemic, with early data now expected by year’s end, Scholar Rock announced. The TOPAZ clinical trial (…
Spinraza (nusinersen) improves muscle strength, endurance, and independence in adults with spinal muscular atrophy (SMA), meeting most of their positive expectations, a small, real-world study in Germany has shown. The data also showed that patients reported greater improvements than those observed with objective motor function measures, suggesting that patient-reported…
The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…
Lung function in people with earlier-onset forms of spinal muscular atrophy (SMA) tends to decline gradually throughout childhood and stabilizes in early adulthood, according to data from a population-based natural history study. The study, “Natural history of lung function in spinal muscular atrophy,” was published in…
Although a disease of motor neurons, nerve cells of the spinal cord and brainstem, the earliest signs of spinal and bulbar muscular atrophy (SBMA) are in skeletal muscles, according to data from a mouse study. These findings suggest that changes in muscle strength and contraction are early disease…
Continuing treatment for spinal muscular atrophy (SMA) is essential and should not be considered elective, or be delayed or interrupted if possible, despite the healthcare limitations imposed by the COVID-19 pandemic. These are the main recommendations given unanimously by a panel…
Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health and identify partial lung collapse in a patient group already highly…
A family’s journey through the diagnosis and treatment of their baby girl, born with spinal muscular atrophy type 1 (SMA1), was the focus of a paper written by her mother and the doctors, highlighting the importance of cooperation between parents and clinicians in caring for children with SMA. Ultimately,…
The interplay between different types of nerve cells, including motor neurons and glial cells, seems to be at the root of motor neuron degeneration and denervation, or the loss of nerve supply, that characterizes spinal muscular atrophy (SMA), a review study reports. The study, “…
