Publications by authors named "Mercedes Lopez Lobato"
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.
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
Neurol Ther
February 2023
Article Synopsis
- Traditional outcome measures for spinal muscular atrophy (SMA) clinical trials are insufficient for capturing the complete severity of the disease, prompting a study to evaluate the psychometric properties of various questionnaires addressing patient and caregiver insights.
- Conducted as a multicenter, prospective, noninterventional study, it included 113 SMA patients aged 2 to 17 years and utilized a range of assessments, including existing scales and newly developed items to evaluate domains such as fatigue and vulnerability.
- The results demonstrated high reliability and construct validity for most measured domains, with perceived fatigability being notably affected and the SMA Independence Scale (SMAIS) showing sensitivity to changes, highlighting the need for improved assessment tools in SMA.
Introduction: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin.
Objectives: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors.