Author Archives: Andrea Lobo

Revvity has launched its EONIS Q system for faster and simplified newborn molecular screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID), the company announced. According to Revvity, this easy-to-use platform reduces the complexity and costs for laboratories, so they can expand newborn screening capabilities.

NIDO-361, Nido Biosciences’ experimental oral treatment for spinal and bulbar muscular atrophy (SBMA), was seen to be generally safe and well tolerated in healthy adults who participated in an initial clinical trial. Results of the Phase 1 study (ACTRN12622000964718) were presented during the 2023 International Kennedy’s…

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…

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…

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…

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…

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…

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…

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…