Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.

Stride velocity 95th centile (SV95C) is a wearable-derived endpoint representing the 5% fastest strides taken during everyday living. In July 2023, SV95C received European Medicines Agency (EMA) qualification for use as a primary endpoint in trials of patients with Duchenne muscular dystrophy (DMD) aged ≥ 4 years-becoming the first digital endpoint to receive such qualification. We present the data supporting this qualification, providing insights into the evidentiary basis of qualification as a digital clinical outcome assessment.

High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.

Spinal muscular atrophy (SMA) is a neuromuscular disorder resulting in the loss of α-motor neurons. Nusinersen is an antisense oligonucleotide administered intrathecally to SMA patients that corrects the splicing defect of SMN2. Not all SMA patients respond equally to the therapy and work is in progress to identify biomarkers that may help stratify to SMA patients.

Correction: Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.

[This corrects the article DOI: 10.1371/journal.pone.