Author Archives: Marta Figueiredo

Eight weeks of treatment with investigational add-on oral therapy reldesemtiv safely improved motor and respiratory strength in adolescents and adults with spinal muscular atrophy (SMA), according to final data from a Phase 2, hypothesis-generating clinical trial. These findings support further clinical testing of reldesemtiv, designed to aid skeletal muscle…

The gene therapy Zolgensma was added to the list of medications available to eligible spinal muscular atrophy (SMA) type 1 patients through England’s and Scotland’s national health services (NHS). With a reported list price of £1.79 million ($2.48 million) per dose — the most expensive yet — Novartis’ Zolgensma uses…

Evrysdi (risdiplam) has been recommended for approval in the European Union (EU) to treat spinal muscular atrophy (SMA) patients, ages 2 months and older, with a clinical diagnosis of type 1, 2, or 3, or with one to four copies of the SMN2 “backup” gene. “Our close partnership…

Genentech’s Evrysdi (risdiplam) improved survival in infants with spinal muscular atrophy (SMA) type 1, and allowed them to achieve developmental milestones not usually seen in the natural course of the disease, according to one-year data from the dose-finding part of the FIREFISH trial. While the trial is still ongoing…

Children with spinal muscular atrophy (SMA) type 1 may have neurodegeneration in several areas of the brain, with impaired cognitive function and profound speech difficulties, according to a review study. However, brain involvement in this severe type of SMA is understudied and further research — using objective measures and…

Targeting a specific region of an intermediate molecule generated from the SMN2 gene increased the levels of functional SMN — the protein lacking in spinal muscular atrophy (SMA) — in cells derived from SMA patients, a study shows. In addition, combining this approach with a splicing modifier similar…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to…

Treatment with Spinraza (nusinersen) was found to reduce the use of ventilation support and to improve motor function in symptomatic infants and children with infantile‐ or later‐onset spinal muscular atrophy (SMA), according to 2.5-year data from the Phase 2 EMBRACE trial. These infants and children had been…