Great Ormond Street Hospital

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

Strategic roadmap for delivery of clinical trials in rare childhood central nervous system (CNS) tumours: a multi-stakeholder consensus

Abstract Rare paediatric central nervous system (CNS) tumours comprise a biologically-heterogeneous group of low-incidence diseases that present significant challenges to both therapeutic development and clinical research, limiting the availability of high-quality evidence to gui...

Data-Driven Fatigue Trajectories in Multiple Sclerosis and Their Predictors

Fatigue is one of the most disabling symptoms of multiple sclerosis (MS), yet its longitudinal trajectories and determinants remain poorly characterized. We aimed to identify trajectories of cognitive and physical fatigue in relapsing-remitting MS (RRMS) and to determine baseline...

The impact of chemotherapy on frontal lobe executive functioning in adolescents and young adults diagnosed and treated for blood cancers: a systematic review

Abstract Background Cancer-related cognitive impairment (CRCI), often termed “chemobrain,” is a recognised effect of cancer therapy. However, most research has focused on older adults with solid tumours, leaving the neurocognitive consequences of chemotherapy in adolescents and y...

The dynamic and heterogeneous structure of the non-canonical inflammasome

Inflammasomes are high-molecular-weight complexes that play integral roles in the innate immune system, triggering an inflammatory cascade to protect against cellular stresses such as pathogenic bacteria. Both canonical and non-canonical inflammasomes have been described in the l...

Autoantibodies to the Sodium/Potassium Pump Alpha-1 Subunit AT1A1 Identify At-Risk Pregnancies That Will Develop Fetal/Congenital Heart Block: Evidence and Translational Plan

Objectives Autoimmune congenital heart block (CHB) has been associated with maternal autoimmune disease for a century, particularly in lupus and Sjögren’s disease pregnancies. Although 80+% of affected pregnancies are anti-Ro positive, CHB develops in only 1 in 50 such pregnancie...

Use of the Il-1 Inhibitor (Anakinra) for the Treatment of Acute Myocarditis in Pediatric Patients: A Single-Center Experience

Objectives Myocarditis is an acute inflammatory process of the myocardium characterized by impaired contractile function. The incidence is 1-2 cases/100,000 children, but it has increased since 2020 due to Pediatric Multisystem Inflammatory Syndrome (MIS-C). The pathogenesis invo...