The natural history of spinal muscular atrophy has been radically changed by the advent of
improved standards of care and the availability of disease-modifying therapies. The aim of …

Abstract 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by
mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive …

Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Background We report the 4‐year follow‐up in type I patients treated with nusinersen and
the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 …

Importance There is increasing evidence that early diagnosis and treatment are key for
outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs …

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a
severe course marked by scoliosis and hip subluxation in nonambulatory patients …

Nucleic acid-based therapeutics (NBTs) are an emerging class of drugs with potential for the
treatment of a wide range of central nervous system conditions. To date, pertaining to CNS …

Respiratory complications are common in spinal muscular atrophy (SMA) and significantly
contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar …

Introduction Over the last decade, the treatment of spinal muscular atrophy (SMA) has
become a paradigm of the importance of early and accurate diagnosis and prompt …

In the absence of head-to-head trials, indirect treatment comparisons (ITCs) are often used
to compare the efficacy of different therapies to support decision-making. Matching-adjusted …