779 Results

B.05 Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): interim results from the Phase 2 NURTURE study

Background: NURTURE (NCT02386553) is an ongoing open-label single-arm efficacy/safety study of intrathecal nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA).

Precious SMA natural history data: A benchmark to measure future treatment successes.

Classic chromosome 5q spinal muscular atrophy (SMA) is one of the most common neuromuscular conditions in childhood and the most common fatal genetic disease in infants. Byers and Banker1 first described the variability of...

Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim results

LMI070X2201 is an open-label, multi-part, FIH study of oral branaplam (formerly LMI070) in infants with Type 1 spinal muscular atrophy with 2 SMN copies. The purpose of Part 1 of this study was to evaluate the safety, tolerability...

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

Here, we sequenced transcriptomes of MNs and adjacent white matter microdissected from spinal cords of presymptomatic SMA mice. This process revealed selective and MN-specific splicing and expression-level perturbations of...

Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy.

We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2–1.1 years) and 10 SMA II patients (age, 1.0–2.8 years) were examined.

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the SMN1 gene. The clinical distinction between SMA type I to IV reflects different age of onset and disease severity. SMN2, a nearly identical...

Cardiac pathology in spinal muscular atrophy: a systematic review.

Background: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene.

Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity.

Patients with Spinal Muscular Atrophy (SMA) are at risk for poor bone health. The prevalence of fractures, low areal bone mineral density (aBMD; Z-score ≤−2.0) of the lateral distal femur and of osteoporosis by SMA subtype...

Consensus statement for standard of care in spinal muscular atrophy.

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not...

Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia.

Objective: We performed a study in patients with proximal spinal muscular atrophy (SMA) to determine the prevalence of reduced maximal mouth opening (MMO) and its association with dysphagia as a reflection of bulbar...

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