A man in Brazil was found to have an exceptionally rare form of spinal muscular atrophy (SMA) — called SMA with lower extremity predominance, or SMA-LED — caused by a mutation in the TBK1 gene, as described in a new case report. Mutations in the TBK1 gene have…
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Children with spinal muscular atrophy (SMA) type 2 and 3 have lower health-related quality of life (HRQoL) compared with healthy youngsters, but scores are similar for both patient groups, a new study reported. While disease type was not found to impact HrQoL, some health-related quality of life measures in…
A technique called bioelectrical impedance analysis (BIA) can be used to measure body composition in people with type 2 or 3 spinal muscular atrophy (SMA), a new study reports. The study, “A comparative analysis of body composition assessment by BIA and DXA in children with type…
Raft Digital Therapeutics has launched a demo version of Cloud Bazaar, a therapeutic video game that promotes physical activity and exercise in children with spinal muscular atrophy (SMA). Developed in partnership with Biogen Canada, the game aims to promote exercise adherence by turning physical activities into games and making…
The U.S. Food and Drug Administration (FDA) has given NMD Pharma the green light to conduct a Phase 2 trial of its oral therapy NMD670 in people with spinal muscular atrophy (SMA) type 3. The upcoming clinical trial aims to evaluate the efficacy, safety, and tolerability of…
There are more than 1,200 people with spinal muscular atrophy (SMA) living in Italy, and the vast majority are on disease-modifying treatment, according to a new study. SMA types 2 and 3 are the most common forms of the disease in the country, but the prevalence…
The use of long-term breathing help, or ventilation, has markedly increased among children with spinal muscular atrophy (SMA) type 1 and other conditions since 2008, according to a survey of ventilation centers in the U.K. This increase coincided with the expanded use of various types of non-invasive masks as…
UNITY Screen, a noninvasive prenatal blood test, can provide an accurate personalized risk assessment for hereditary diseases such as spinal muscular atrophy (SMA) in fetuses, according to a recent study. Offered by BillionToOne in the U.S., the single-gene noninvasive prenatal test (sgNIPT) included in UNITY Screen requires…
The elevated production of the cell-death-related protein c-Fos was closely linked to the death of motor neurons in two mouse models of spinal muscular atrophy (SMA), a study showed. Motor neurons are the muscle-controlling nerve cells that are lost in people with SMA. Although c-Fos didn’t directly cause the…
People with spinal muscular atrophy (SMA) types 2 or 3 who start treatment with Spinraza (nusinersen) and show less muscle damage on MRI scans are more likely to see motor function improvements, a new study reports. The finding “underscores the importance of early diagnosis and treatment to obtain…
