A5011698843- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Muscle activation and electromyography studies
- Children's Physical and Motor Development
- Congenital Anomalies and Fetal Surgery
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Adrenal Hormones and Disorders
- Cerebral Palsy and Movement Disorders
- Genetic Neurodegenerative Diseases
- Gastric Cancer Management and Outcomes
- Colorectal Cancer Surgical Treatments
- Prosthetics and Rehabilitation Robotics
- Cardiac Structural Anomalies and Repair
- Exercise and Physiological Responses
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Transcranial Magnetic Stimulation Studies
- Tumors and Oncological Cases
- Delphi Technique in Research
- Family and Disability Support Research
- Musculoskeletal pain and rehabilitation
- Genetics and Neurodevelopmental Disorders
- Muscle metabolism and nutrition
- Nutrition and Health in Aging
- Cardiac, Anesthesia and Surgical Outcomes
University College London
2021-2025
Great Ormond Street Hospital
2021-2025
NIHR Great Ormond Street Hospital Biomedical Research Centre
2022-2025
University of Cambridge
2025
National Institute for Health Research
2024
Klinikum Görlitz
2023
Sarepta Therapeutics (United States)
2023
Agostino Gemelli University Polyclinic
2023
Transnational Press London
2023
<h3>Importance</h3> Vamorolone is a synthetic steroidal drug with potent anti-inflammatory properties. Initial open-label, multiple ascending dose-finding studies of vamorolone among boys Duchenne muscular dystrophy (DMD) found significant motor function improvement after 6 months treatment in higher-dose (ie, ≥2.0 mg/kg/d) groups. <h3>Objective</h3> To investigate outcomes 30 open-label treatment. <h3>Design, Setting, and Participants</h3> This nonrandomized controlled trial was conducted...
To investigate the associations between mutations expected to differentially affect Dp140 expression and long-term trajectories of respiratory upper-limb motor outcomes in Duchenne muscular dystrophy (DMD). In a retrospective analysis population-based longitudinal data from three real-world natural history sources, individuals with DMD aged 5 years 18 were subdivided according predicted effects participants' mutation on dystrophin isoform (group 1, Dp427 absent, Dp140/Dp71 present; group 2,...
Duchenne Muscular Dystrophy is a progressive neuromuscular disorder characterized by the gradual weakening and deterioration of muscles, leading to loss ambulation in affected individuals. This decline mobility can be effectively assessed using North Star Ambulatory Assessment (NSAA) scores, along with measures such as 10-m walk time taken rise from floor. We propose dynamic linear model predict trajectories these clinical outcomes, primary focus on NSAA scores. Our aims assist clinicians...
To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1).This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated nusinersen between 2017 2020. We adapted validated Paediatric Functional Oral Intake Scale (p-FOIS), which is an outcome measure to function. Analysis considered SMA1 subtype, nutritional support, Children's Hospital Philadelphia Infant Test Neuromuscular Disorders (CHOP INTEND) p-FOIS...
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).
ABSTRACT Introduction/Aims The evolving landscape of spinal muscular atrophy (SMA) treatment in the United Kingdom allows patients to switch, with health authority approval, from one another. This retrospective analysis explores characteristics pediatric across who switched between available therapies that included nusinersen, risdiplam, and onasemnogene abeparvovec (OA). Methods Demographic data were collected, along indicators disease severity motor function scores for all registered SMA...
In Duchenne muscular dystrophy (DMD), age at symptom onset and rate of decline thereafter vary considerably. This study contrasted disease progression over time using the North Star Ambulatory Assessment (NSAA) in an overall sample patients with DMD (mean 7.1 years; baseline total NSAA score 22.2) that a centrally representative subgroup 6.9 24.0) defined according to median loss ambulation. The average trajectory understated more rapid rates experienced by subgroup.
Abstract Background Localised renal cell carcinoma (RCC) is usually treated surgically, with post‐operative imaging‐based surveillance to monitor for recurrence. However, practices vary widely, and patients often lack a clear understanding of their risk recurrence follow‐up care. The PREDICT Kidney tool has been developed enhance communication by providing individualised mortality estimates. uses the Leibovich score augmented English national data provide personalised assessment cancer death...
The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD).We considered glucocorticoids (GC) use, dystrophin isoforms amenability exon 8, 44, 45, 51 53 skipping drug subgroups, the impact on loss ambulation. We analysed 598 boys, 2604 observations. This analysis patients from UK NorthStar database (2003-2020) one five regimes: "GC naïve", "deflazacort...
Abstract Background and purpose Treatment with glucocorticoids (GCs) is part of the standard care in Duchenne muscular dystrophy, but excess weight gain height stunting are common side‐effects. It still unclear how these growth‐related side‐effects affect motor function. Methods This retrospective cohort study utilized 2228 observations from 648 participants UK NorthStar database who had growth ambulation data recorded between 2006 2020. Joint modelling was used to analyse effect...
Glucocorticosteroids (GC) are standard-of-care treatment for most boys with duchenne muscular dystrophy (DMD). GC use has changed over time evolving evidence, and we describe patterns, dosing side-effects in the UK 11 years. NorthStar data from 2012 to 2022 were analysed understand type, regime starting age. dose age, patterns of switching side-effect profiles by type also analysed. Participants attributed 'other' regimes queried details included. Data on usage available 1117 boys, across...
Background Boys with Duchenne Muscular Dystrophy (DMD) display heterogeneous motor function trajectory in clinics, which represents a significant obstacle to monitoring. Objective: In this paper, we present the UK centiles for North Star Ambulatory Assessment (NSAA), 10 m walk/run time (10MWR) and velocity (10MWRV), rise from floor (RFF) (RFFV) created cohort of glucocorticoid treated DMD boys between age 5 16 years. Methods: Participants were included NorthStar registry if they had...
The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we median change the RHS score up two years paediatric SMA 2 3 contextualise it Functional Motor Scale-Expanded (HFMSE). These scores were considered by type, function, baseline score. We consider new transitional group, spanning crawlers, standers, walkers-with-assistance,...
Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.Modified Mercuri scoring lower limb characterised NM patients referred to highly specialised service for congenital myopathies at Great Ormond Street Hospital. Findings were compared clinical data derived from collated published data.Twenty-seven with identified (8 NEB-NM, 13 ACTA1-NM, 6 TPM3-NM). NEB-NM demonstrated sparing thigh....
Abstract The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we median change the RHS score up two years paediatric SMA 2 3 contextualise it Functional Motor Scale–Expanded (HFMSE). These scores were considered by type, baseline score. We consider new tran-sitional group, spanning crawlers, standers walkers-with-assistance,...