Publications by authors named "D De Vivo"
Article Synopsis
- At 12 months, apitegromab showed improved motor function and a favorable safety profile in patients with Type 2 or 3 spinal muscular atrophy (SMA); this study reports on the extended effects after 36 months for nonambulatory patients.
- In the open-label extension of the study, 35 nonambulatory patients received apitegromab and were evaluated using various assessments, resulting in significant improvements in motor scores and caregiver-reported outcomes over 36 months.
- The positive effects of apitegromab observed at 12 months were maintained at 36 months, with common side effects including fever, nasopharyngitis, and respiratory infections, but no new safety concerns were identified. *
Background And Objectives: Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on the respiratory outcomes in patients with nusinersen-treated SMA. The aim of this study was to describe changes in respiratory function in pediatric patients with SMA type 2 and 3 on regular treatment with nusinersen within the iSMAc international cohort and to compare their trajectory with the natural history (NH) data published by the consortium in 2020.
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- Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive muscle degeneration, prompting a need to update diagnosis best practices post-treatment advancements and newborn screening implementation.
- A systematic review and expert consensus from healthcare professionals in the U.S. and Europe emphasized the critical role of newborn screening (NBS) for SMA and established new recommendations for characterizing NBS-identified infants and enhancing specialty care services.
- The working group highlighted the necessity of involving individuals with SMA and their caregivers in the process to better support and provide resources for those diagnosed through NBS, while noting limited data on adult-onset SMA diagnosis.
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by a varying degree of severity that correlates with the reduction of SMN protein levels. Motor neuron degeneration and skeletal muscle atrophy are hallmarks of SMA, but it is unknown whether other mechanisms contribute to the spectrum of clinical phenotypes. Here, through a combination of physiological and morphological studies in mouse models and SMA patients, we identify dysfunction and loss of proprioceptive sensory synapses as key signatures of SMA pathology.
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