For caregivers of children with spinal muscular atrophy (SMA), the availability of new disease-modifying treatments has offered hope — but difficulties in accessing these therapies and uncertainty about their long-term effectiveness also have fostered frustration and anxiety. That’s according to a new qualitative study, done in Canada, that aimed…
The Committee for Medicinal Products for Human Use (CHMP) favors European Union (EU) approval of Evrysdi (risdiplam) being extended to cover babies with spinal muscular atrophy (SMA) younger than 2 months of age. The recommendation now will be reviewed by the European Commission, which is expected to issue…
Measuring levels of neurofilament light chain (NfL) in the blood could be used to detect subtle nerve damage that may occur as a side effect of experimental treatments for diseases like spinal muscular atrophy (SMA). That’s according to the study, “Neurofilament Light Chain: A Translational Safety Biomarker…
Children with spinal muscular atrophy (SMA) experience impaired health-related quality of life even when using disease-modifying therapies, according to a recent Swedish study. Still, over time on treatment, some patients experienced life quality gains, particularly those with SMA type 2. These improvements were largely related to improved…
Nonambulatory young adults with spinal muscular atrophy (SMA) who have contractures — when muscle and connective tissue around a joint become short and hardened — do not feel significantly hindered by these in their daily lives. Despite contractures in multiple joints, they do not perceive them as a constant…
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.
Children diagnosed with spinal muscular atrophy (SMA) and started on Spinraza (nusinersen) as presymptomatic newborns safely continue to achieve motor milestones with no need for permanent ventilation after five years of treatment, updated data from the ongoing NURTURE trial show. For the majority of trial children with two…
A histone deacetylase (HDAC) enzyme inhibitor called AR42 was found to prolong survival and ease motor symptoms in a mouse model of spinal muscular atrophy (SMA). While scientists initially expected the experimental molecule to show benefits by helping to boost levels of the SMN protein that’s deficient in SMA,…
Most of the infants and children with spinal muscular atrophy (SMA) in the RESPOND clinical trial who responded poorly to the gene therapy Zolgensma showed gains in motor function with Biogen’s Spinraza (nusinersen), according to early results. Prior preclinical studies have suggested Zolgensma may target only…
A growing number of young children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are gaining the ability to sit, stand, and walk, according to four-year data from the FIREFISH clinical trial. No new deaths have been reported since the study’s primary…
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