Author Archives: Andrea Lobo

Low levels of SMN protein in muscle stem cells (MuSC) — specialized cells that help sustain muscle growth and regeneration — may contribute to the loss of motor neurons, the nerve cells that control movement and…

The blood creatinine-to-cystatin-c ratio (CCR), an indicator of muscle mass and strength, may be a biomarker of treatment response in children with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly…

The strength of nerve signals to muscles may serve as a marker of disease severity, and as a means to track responses to Spinraza (nusinersen) treatment, in children with spinal muscular atrophy (SMA), the…

The case of a 51-year-old man ultimately diagnosed with spinal muscular atrophy (SMA) type 4 is believed to mark the first time this form of the rare genetic disease has had as its main…

A small molecule known as 10H-phenothiazine (PTZ) reduced the loss of motor neurons, the nerve cells lost in spinal muscular atrophy (SMA), in animal models of the disease. The treatment also rescued SMA-related changes in the…

Mifepristone, a glucocorticoid blocker, increased survival and muscle size in a mouse model of spinal muscular atrophy (SMA), according to a recent study. Combining mifepristone with a gene therapy construct similar to the one used in…

Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improved motor function in children with spinal muscular atrophy (SMA) who needed tracheostomy, without posing new safety risks, a real-world study showed. Tracheostomy is a surgical procedure that creates an opening in…

A high-dose regimen of nusinersen — the active ingredient in Spinraza — has been recommended for approval to treat spinal muscular atrophy (SMA) by the Committee for Medicinal Products for Human Use (CHMP), a branch of…

Blocking a small RNA molecule called miR-140-3b can improve motor function in a mouse model of spinal muscular atrophy (SMA), a study suggested. Reducing miR-140-3b activity increased the levels of KIF5A, a protein involved in the transport…

An investigational gene therapy that targets nerve cells thats’s being developed by Exegenesis Bio was well tolerated and improved motor function in a mouse model of spinal muscular atrophy (SMA), a study shows. Based on…