Publications by authors named "S Previtali"
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.
Article Synopsis
- The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
- The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
- Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
Article Synopsis
- Skeletal muscle laminopathies (SMLs) are rare genetic disorders linked to mutations in the LMNA gene, affecting skeletal muscles.
- A 2-year study involving 26 patients aimed to understand the progression of SMLs, using various assessments for muscle performance and respiratory function.
- Results indicated a significant decline in muscle function (NSAA score) and respiratory capacity (FVC and FEV1) over two years, while other measurements like walking tests and joint flexibility remained stable.
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.
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- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.