Razionale scientifico

The introduction of disease-modifying therapies has profoundly transformed the natural history of spinal muscular atrophy, redefining clinical trajectories, treatment expectations and standards of care. In adults, however, phenotypic heterogeneity, differences in disease duration and the complexity of individual needs make clinical decision-making increasingly challenging and difficult to capture through individual functional measures alone. In this evolving landscape, real-world evidence plays a pivotal role. Longitudinal data generated in clinical practice can provide a deeper understanding of treatment response, stabilization, progression and residual unmet need. Switching has also become an increasingly relevant consideration, requiring a critical, multidimensional assessment of the available evidence to understand not only whether to modify treatment, but more importantly why, when and for whom. At the same time, biochemical, muscle-related and digital biomarkers are opening new perspectives on biological processes and functional changes that may not be fully captured by conventional clinical scales. Although no single biomarker can yet guide complex treatment decisions, their integration with phenotype and longitudinal clinical trajectories represents an essential step towards more predictive and personalized care. "SMA Adulthood: Advancing Decision-Making – From Real-World Experience to Precision Medicine" brings together insights from clinical practice, translational research and emerging technologies to support the development of a more longitudinal, multidimensional and person-centered approach to decision-making in adult SMA.

Programma

Responsabili del corso

• Lorenzo Maggi

  Responsabile scientifico

  Specializzazione: Neurologia

  Struttura: Istituto Neurologico Carlo Besta, Dipartimento di Neurochirurgia

  Ruolo: Direttore

Relatori e docenti

• Silvia Bonanno

  Relatore

  Specializzazione: Neurologia

  Struttura: Istituto Neurologico Carlo Besta

  Ruolo: Dirigente Medico

• Tina Duong

  Relatore

  Specializzazione: Fisioterapia

  Struttura: Stanford University School Medicine

  Ruolo: Co-direttore del Centro Neuro IGNITE

• Andreas Roos

  Relatore

  Specializzazione: Biologia

  Struttura: Dip.to di Neuropediatria, Ospedale Universitario di Essen

  Ruolo: Responsabile

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