Author Archives: Marta Figueiredo PhD

Infants with spinal muscular atrophy (SMA) who are being screened for Zolgensma may present with maternal antibodies against the therapy’s viral carrier — making them ineligible for the therapy — until the age of 8 months, a small study shows. This means that an infant first testing positive for…

Evrysdi (risdiplam) was generally safe and well tolerated in a broader group of children and adults with spinal muscular atrophy (SMA) types 1 and 2 than that included in clinical trials supporting the therapy’s approval. These were the findings of an analysis of safety data from the U.S.

Zolgensma appears generally safe and well tolerated among spinal muscular atrophy (SMA) patients weighing 8.5 kilograms (about 18.7 lbs) or more, with no new safety concerns identified in the heavier group. Notably, 8.5 kilograms was the maximum weight of SMA patients enrolled in clinical trials supporting Zolgensma’s approval.

Treatment with Spinraza (nusinersen) appears safe in infants and children with spinal muscular atrophy (SMA) who responded poorly to the gene therapy Zolgensma, early safety data from the first nine RESPOND trial patients show. Motor and lung function were the most common domains showing disease progression despite Zolgensma treatment in…

The availability of early genetic testing and approval of several spinal muscular atrophy (SMA) treatments has dramatically changed disease outcomes, while introducing ethical issues in terms of screening, predicting SMA severity, and patient access to therapy. As such, appropriate information and support should be given to parents and patients…

Treatment with Spinraza (nusinersen) stabilized or improved motor abilities in children and adults with spinal muscular atrophy (SMA) regardless of interruptions in physiotherapy due to the COVID-19 pandemic, a small and single-site study suggests. These findings add to the large body of evidence supporting Spinraza’s benefits in SMA patients,…

Respiratory muscle strength is more severely affected in people with earlier-onset forms of spinal muscular atrophy (SMA), but it generally declines over time across SMA types 1 to 3, according to data from a population-based natural history study. One of the measures of respiratory strength, peak expiratory flow, was found to…

Blood biomarker levels of muscle damage — rather than nerve cell damage — are significantly altered in people with a rare form of adult-onset spinal muscular atrophy (SMA) called the Jokela type (SMAJ), according to a study in Finland. Also, the levels of creatinine, a biomarker of muscle mass,…

Despite its well-reported benefits in motor function, Spinraza (nusinersen) may not be as effective at preventing or easing feeding and swallowing difficulties in children with spinal muscular atrophy (SMA) type 1, according to a single-center study in the U.K. Those with SMA type 1c, this type’s least severe subgroup, were more…

A group of healthcare professionals involved in the diagnosis and care of people with spinal muscular atrophy (SMA) in Scotland, and in research into the rare genetic condition, is calling for the addition of SMA to the list of diseases included in the country’s free newborn screening (NBS) program.