Publications by authors named "S Spinty"
Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development.
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- Duchenne muscular dystrophy (DMD) is a serious genetic disorder caused by a lack of dystrophin, and the study explores the potential of givinostat, a histone deacetylase inhibitor, to improve outcomes for affected children.* -
- Conducted as a phase 3, double-blind, placebo-controlled trial across 41 sites in 11 countries, researchers tested the safety and efficacy of givinostat in boys aged 6 and older who were already on corticosteroid treatment.* -
- The primary goal was to assess the four-stair climb performance after 72 weeks of treatment, comparing changes between those given givinostat and the placebo, while monitoring safety throughout the study.*
Article Synopsis
- Vamorolone, a glucocorticoid receptor agonist, was tested to assess its effectiveness and safety over 48 weeks compared to prednisone in children with Duchenne muscular dystrophy (DMD).
- A double-blind clinical trial involved 121 participants aged 4 to under 7 years, receiving varying doses of vamorolone and prednisone, with improvements monitored in motor skills and growth.
- Results indicated that vamorolone (6 mg/kg/day) maintained motor skill improvements over 48 weeks, with significant growth benefits seen after participants switched from prednisone to vamorolone.
Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the brainstem and spinal cord. Risdiplam is an orally administered SMN2-splicing modifier which increases production of functional SMN protein. Risdiplam was offered in the UK under early access to medicines scheme (EAMS) to SMA type 1 and 2 patients aged 2 months and older, not suitable for authorised treatments from September 2020 to December 2021.
View Article and Find Full Text PDFBackground: Drug repurposing could provide novel treatment options for Duchenne muscular dystrophy. Because tamoxifen-an oestrogen receptor regulator-reduced signs of muscular pathology in a Duchenne muscular dystrophy mouse model, we aimed to assess the safety and efficacy of tamoxifen in humans as an adjunct to corticosteroid therapy over a period of 48 weeks.
Methods: We did a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 12 study centres in seven European countries.