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…
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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…
Add-on treatment with Scholar Rock’s muscle-targeted therapy apitegromab continues to stabilize or improve motor function for young spinal muscular atrophy (SMA) types 2 and 3 patients who entered the study unable to walk, according to a three-year update from the TOPAZ clinical trial and its extension phase. Sustained…
The COVID-19 pandemic made it more difficult for many people with spinal muscular atrophy (SMA) to access needed healthcare, a study highlights. At the same time, the pandemic prompted new approaches to facilitating care and running clinical trials, such as the widespread adoption of telehealth, which brings health providers…
The U.S. Food and Drug Administration (FDA) has given Alcyone Therapeutics the go-ahead to start a clinical trial testing ThecaFlex DRx, its implantable system for repeat use of Spinraza (nusinersen) to treat people with spinal muscular atrophy (SMA). The pivotal trial, called PIERRE (NCT05866419), will be conducted…
Researchers have developed new patient-derived cell models of spinal muscular atrophy (SMA) caused by SMN1 mutations as well as the more rare spinal muscular atrophy with respiratory distress type 1 (SMARD1). The cells exhibited structural abnormalities consistent with SMA which could be rescued with gene therapies. Scientists believe the new…
