Great Ormond Street Hospital

Optimized Hemoglobin Depletion Improves Clinical Proteomics from Dried Blood Spots

Abstract Equitable access to large sample cohorts for robust, high-throughput proteomics for biomarker discovery is a major barrier to widescale clinical implementation. Dried blood spots (DBS) offer a minimally invasive alternative to venous blood draws, enabling at-home microsa...

Paediatric haematopoietic stem cell transplantation research priorities: Results from an international multi‐stakeholder priority setting partnership

Summary Co‐designed research in paediatric HSCT is limited. We sought to determine research priorities which represent the shared priorities of patients, parents, carers and healthcare professionals (HCP) within Australia, New Zealand, the Netherlands and the United Kingdom. An i...

Clinical Ethics Framework for Last‐Minute Pediatric Refusal of Anesthesia Induction

Induction of anesthesia is one of the most distressing moments for pediatric patients during their perioperative experience. They may consequently refuse induction at the last minute. Anesthesia providers are then placed in a challenging ethical dilemma: they must seek to gain th...

Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions

Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading t...

Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis

Abstract Whole-genome sequencing (WGS) has been shown to improve diagnosis beyond standard-of-care genetic tests and guide precision treatment for childhood cancer. While WGS is now offered for children with suspected cancer in England, clinical workflows typically return results...

MRI Characteristics of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease

Importance Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a demyelinating disease distinct from multiple sclerosis (MS) and aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD). Magnetic resonance imaging (MRI) is central t...

Implementing an integrated care pathway for unaccompanied children and young people seeking asylum: a qualitative evaluation of implementation barriers, enablers and acceptability

Unaccompanied children and young people seeking asylum are a highly vulnerable patient group with complex social, physical and mental health needs. Integrated care pathways hold promise for improving care access, coordination and outcomes across fragmented health and social care...

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicent...

Hyperoxia and neurologic complications in pediatric veno-arterial extracorporeal membrane oxygenation: a retrospective ELSO registry study

Hyperoxia can contribute to neurologic injury through oxidative injury and platelet activation leading to microvascular thrombosis in critical illness. We aimed to determine if hyperoxia exposure during ECMO is associated with increased neurologic complications. Secondarily, we a...

Body composition, geography and ethnicity: understanding the associations with health

Abstract Human body composition varies substantially across populations, for a range of different reasons that remain poorly understood. Similar to body size and limb proportions, both fat-free and fat mass are geographically patterned, which may relate both to ancestry but also...

CART-Cell Therapy in Pediatric Acute Lymphoblastic Leukemia: A Review for General Pediatricians

Chimeric antigen receptor (CAR) T cell therapy has transformed outcomes for children and young adults with relapsed/refractory CD19+ B-cell acute lymphoblastic leukemia (B-ALL), enabling deep remissions even in patients who are refractory to chemotherapy or have relapsed after he...

Extensive and differential platinum chemotherapy mutagenesis in livers of children

Childhood cancer survivors often experience late adverse effects that may be linked to chemotherapy mutagenesis. We studied chemotherapy mutagenesis in normal pediatric tissues using duplex sequencing (NanoSeq) to enable the detection of mutations from single DNA molecules. We fo...

Accuracy of Virtual Surgical Planning in Le Fort III Distraction Osteogenesis: A 3-Dimensional Evaluation of Planned and Achieved Outcomes

BACKGROUND: Syndromic hypoplasia of the midface can be addressed by Le Fort III osteotomy. Three-dimensional planning tools and cutting guides have the potential to facilitate the design of Le Fort III osteotomy and distraction vectors, anticipate potential challenges, and mitiga...

Research Update: A Systematic Review of the Relationship Between Eating Disorder Symptoms and Parental Socioeconomic Status ( SES ) Among Adolescents

ABSTRACT Objective Eating disorders (EDs) have long been viewed as disorders affecting higher socioeconomic groups, yet recent evidence shows they occur across all backgrounds. This systematic review and meta‐analysis aims to evaluate the relationship between parental socioeconom...

Applying a systemic approach that extends beyond the brain to Alzheimer’s disease pathogenesis

Traditional dementia research often isolates single aspects, biomarkers or symptoms, overlooking complex interactions shaping disease risk and progression. Lysosomal and mitochondrial dysfunction, reflecting systemic processes, may explain links between Alzheimer’s and metabolic,...

EP464 - ECE_2010 - Hyperphagia severity in adult patients with Bardet-Biedl Syndrome-a mixed-methods cross-sectional study in the United Kingdom

Background Bardet-Biedl Syndrome (BBS) is a rare genetic disease frequently associated with hyperphagia, an insatiable feeling of hunger, persistent food-seeking behaviours and abnormal food intake. This can have behavioural, emotional, social and health consequences, and may lea...

Minimally verbal status in children with intellectual disability of genetic origin – prevalence, functional impact and relationship with motor skills: evidence from the IMAGINE-ID cohort

Abstract Background Up to a third of autistic children do not develop functional speech and remain minimally verbal (MV) beyond the age of 5, yet little is known about the clinical characteristics of this group. Less still is known about the prevalence or impact of MV status in c...

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...

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...

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...