Publications by authors named "M Madruga-Garrido"
Article Synopsis
- Rigid spine syndrome is a rare condition in children marked by progressive scoliosis, neck and spine stiffness, muscle weakness, and breathing issues, primarily linked to genetic variations in the SELENON gene.
- Recent research identified additional genetic variants in the HMGCS1 gene in five patients, suggesting it plays a role in this syndrome, despite it not being previously linked to any diseases.
- Functional studies of the HMGCS1 variants showed altered protein stability and activity, and experiments in zebrafish indicated that these mutations severely impact development, but can be rescued by introducing healthy HMGCS1 mRNA.
Background: Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a need for further evidence. This study seeks to assess the impact of nusinersen, when combined with standard care, on bulbar function, respiratory function, and the necessity for respiratory support among pediatric patients with spinal muscular atrophy (SMA).
Methods: Prospective observational study, involving pediatric SMA patients (Types 1-3) undergoing nusinersen treatment at the Hospital Universitario Virgen del Rocío in Spain over at least 24 months.
Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire.
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.