Charles Wade

Imposters in the MS clinic: Adult-onset inherited white matter disorders

Charles Wade

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The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature

Charles Wade, Anderson Rodrigues Brandão de Paiva, Paulo Ribeiro Nóbrega, Álvaro Ferreira et autres

BACKGROUND: AARS2-related leukoencephalopathy is a rare autosomal recessive leukodystrophy with overlapping clinical and radiological features with CSF1R-related disease but distinct genetic and phenotypic characteristics. Since its description in 2014, fewer than 60 cases have been reported. METHODS: We conducted a multicentre retrospective …

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Optimal Clinical Trials Platform for Progressive Multiple Sclerosis (OCTOPUS): protocol for an international, multi-arm, multi-stage, platform, randomized controlled, double-blind, phase 3 clinical trial

Sean Apap Mangion, Charles Wade, Cheryl Pugh, Matthew Burnell et autres

ABSTRACT Introduction Current treatments for multiple sclerosis (MS) do not address the pathological processes of neurodegeneration and chronic demyelination. This, coupled with the significant challenges of translating promising phase 2 results to phase 3 trial success, highlights the need for more efficient …

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An automated quantitative report for multiple sclerosis using only 3D T2-fluid-attenuated inversion recovery MRI

Zoe Mendelsohn, Ferran Prados, Giuseppe Pontillo, Olivia Goodkin et autres

PURPOSE: Automated tools quantifying multiple sclerosis (MS) imaging biomarkers often require non-routine MRI sequences and lack MS reference data. We developed an open-source quantitative report (QReport) that integrates validated 3D T2-FLAIR quantification methods with multi-centre MS and healthy reference models, and presents …

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From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars et autres

BACKGROUND: CSF1R-related disorder (CSF1R-RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS), limiting the option …

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Investigating the treatment of vascular risk with simvastatin in secondary progressive multiple sclerosis: analysis from the MS-STAT2 randomized controlled trial

Thomas E. Williams, Nicholas Magill, Nevin A. John, Alessia Bianchi et autres

Vascular comorbidity is associated with more severe disability in multiple sclerosis. However, it is unknown whether treating vascular risk will lead to a disease modifying effect. Given the established role of simvastatin as a modifier of vascular risk, we aimed to investigate …

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The ABILHAND‐23 Patient Reported Outcome Measure in Secondary Progressive Multiple Sclerosis: A Cross‐Sectional Analysis With the Nine Hole Peg Test

Sean Apap Mangion, Charles Wade, Thomas E. Williams, Alessia Bianchi et autres

BACKGROUND: People with progressive multiple sclerosis (pwPMS), who typically have established lower limb dysfunction, experience greater disability from upper limb dysfunction (ULD). The 9-hole peg test (9HPT) is the primary clinical measure for ULD but does not fully capture the patient experience. …

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Author response for "The ABILHAND-23 Patient Reported Outcome Measure in Secondary Progressive Multiple Sclerosis: A Cross-Sectional Analysis with the Nine Hole Peg Test"

Sean Apap Mangion, Charles Wade, Alessia Bianchi, Floriana De Angelis et autres

Evaluating the effectiveness of simvastatin in slowing the progression of disability in secondary progressive multiple sclerosis: a synopsis of MS-STAT2, a multicentre, randomised controlled, double-blind, phase 3 clinical trial

Thomas E. Williams, James Blackstone, Nevin A. John, Marie Braisher et autres

Background Despite the relative success of immuno-modulatory disease-modifying therapy in relapsing remitting multiple sclerosis, progressive worsening of disability remains a major problem, particularly for those with secondary progressive multiple sclerosis. Various underlying mechanisms are likely to contribute, augmented by comorbidities (such as …

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Executive Dysfunction and Disability in SPMS : Predictive Value of the Frontal Assessment Battery in the UCLH MS ‐ STAT2 Cohort

Charles Wade, Anisha Doshi, Sean Apap Mangion, Thomas E. Williams et autres

INTRODUCTION: Cognitive impairment is common in secondary progressive multiple sclerosis (SPMS), with executive dysfunction disproportionately so. The frontal assessment battery (FAB) is a bedside test assessing executive function. This study explores the distribution of FAB scores in a large SPMS cohort and …

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Brain Volume Loss Correlation with Clinical Severity and Progression in Individuals with CSF1R-ALSP: Findings from the ILLUMINATE Prospective Natural History Study (P4-3.017)

David R. Lynch, Jeffrey Marc Gelfand, Nicole I. Wolf, Wolfgang Koehler et autres

To examine whether brain volume loss measured by MRI is associated with clinical severity and progression over time in individuals with CSF1R-ALSP.

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Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease

Delia Gagliardi, Charles Wade, Arianna Tucci, Henry Houlden et autres

Background Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown …

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