Children with spinal muscular atrophy (SMA) generally have poor bone health, including low bone mineral density and reduced bone formation and remodeling, a study indicates. The effect on bone health is more pronounced in children with worse motor function, but as treatment with Spinraza (nusinersen) improved motor function…
Certain RNA molecules may be used as biomarkers to assess response to treatment with Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), according to a recent study. These RNA (which stands for ribonucleic acid) molecules are found in the cerebrospinal fluid (CSF), the liquid surrounding the brain…
Intellectual disability is not common among children with type 2 and 3 spinal muscular atrophy (SMA), but some aspects of cognitive function might be impaired in these children, according to a recent study. In particular, performance in specific tasks involving working memory — easily accessible information retained for a…
Decreased levels of the survival motor neuron (SMN) protein — missing or present in low levels in spinal muscular atrophy (SMA) — can cause defects in the structure and function of a brain’s cerebellum. This can result in difficulties with motor control and affect the ability to coordinate movement.
Researchers are calling for change in prenatal diagnostic procedures in Latvia after the first registered case of a newborn with spinal muscular atrophy (SMA) type 0 was reported in the country. “[It] is crucial to be able to detect this disease prenatally in order to provide the best possible…
Scientists at The Jackson Laboratory — a U.S.-based biomedical research nonprofit — were granted $22.8 million by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), for a novel method to develop gene editing therapies for neurological disorders, including spinal…
Treatment with Spinraza (nusinersen) for two years led to improvements in apnea and oxygen saturation during sleep in children with spinal muscular atrophy (SMA), a real-world study in Australia reported. The treatment also contributed to ceasing ventilation support in some patients with less severe disease, and stabilized lung…
Avenue Therapeutics has won the exclusive rights to develop and commercialize AJ201, AnnJi Pharmaceutical’s experimental treatment for spinal and bulbar muscular atrophy (SBMA), in certain regions of the globe under the terms of a new licensing agreement. Specifically, the agreement lists the U.S., Canada, the European Union,…
TREAT-NMD and Aetion have formed a partnership to deliver real-world evidence and promote the development of new treatments for people with rare neuromuscular diseases, including spinal muscular atrophy (SMA). The projects will combine the expertise of the TREAT-NMD global registry network, which collects de-identified data from patients…
A 23-day-old girl with spinal muscular atrophy (SMA) type 2, later treated with Spinraza (nusinersen), underwent successful surgical repair of heart defects, according to a new case report. The researchers noted that individuals with SMA may be perceived as risky surgical candidates, considering the poor prognosis for untreated…
