Cord Spilker

Bradford Teaching Hospitals NHS Foundation Trust

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Helen Ford

Leeds General Infirmary

Tarunya Arun

University Hospitals Coventry and Warwickshire NHS Trust

Miriam Mattoscio

Queen's Hospital

Nikos Evangelou

University of Nottingham

Gavin Giovannoni

Queen Mary University of London

Eli Silber

Lewisham and Greenwich NHS Trust

Veronica Antoine

Northern Health and Social Care Trust

Antonio Scalfari

Imperial College London

Ruth Dobson

Queen Mary University of London

Judith Brooke

Northern Health and Social Care Trust

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University College London

Queen Mary University of London

National Hospital for Neurology and Neurosurgery

Monash University

Monash Health

UCL Biomedical Research Centre

Leeds Teaching Hospitals NHS Trust

Universitat Oberta de Catalunya

Fundació Clínic per a la Recerca Biomèdica

University of Siena

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THE PSYCHOLOGICAL DETERMINANTS OF JOB RETENTION IN MS

Journal of Neurology Neurosurgery & Psychiatry (2014)

Sookhoe Eng Charlotte Rose Wicks Amanda Stroud Alan Tennant Cord Spilker

Background

People with multiple sclerosis stop working earlier than expected due to disease progression, individuals giving up work voluntarily or due to employers9 advice or requirement. Although effective symptom management, social support and psychological factors can influence job retention, the relationship between job retention and psychological factors remains unclear. Exploring this may lead to psychological interventions to aid job retention.

Methods

In phase 1 we held three focus groups with people with MS in paid employment discussing work-related experiences and concerns to elicit key psychological constructs. In phase 2 participants will complete validated questionnaires to measure the identified psychological factors, work instability and the impact of MS at four time points over 30 months.

Results

20 employed people with MS participated in 3 focus groups. The key themes identified were disclosure, self-management/coping, work environment and illness-related. A questionnaire pack was developed to include the identified themes. 221 employed people with MS have been recruited to phase 2 of the study and 213/221 (96.4%) completed the baseline questionnaire. 91% have relapsing-remitting MS.

Discussion

We have identified the main themes which impact on employment for people with MS. We will explore the impact of these on job retention in the longitudinal study.

10.1136/jnnp-2014-309236.130

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ADAMS project: a genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis based in the UK

BMJ Open (2023)

Benjamin Meir Jacobs Luisa Schalk Angie Dunne Antonio Scalfari Ashwini Nandoskar

Purpose Genetic studies of multiple sclerosis (MS) susceptibility and severity have focused on populations of European ancestry. Studying MS genetics in other ancestral groups is necessary to determine the generalisability of these findings. The genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis (ADAMS) project aims to gather genetic and phenotypic data on a large cohort of ancestrally-diverse individuals with MS living in the UK. Participants Adults with self-reported MS from diverse ancestral backgrounds. Recruitment is via clinical sites, online ( https://app.mantal.co.uk/adams ) or the UK MS Register. We are collecting demographic and phenotypic data using a baseline questionnaire and subsequent healthcare record linkage. We are collecting DNA from participants using saliva kits (Oragene-600) and genotyping using the Illumina Global Screening Array V.3. Findings to date As of 3 January 2023, we have recruited 682 participants (n=446 online, n=55 via sites, n=181 via the UK MS Register). Of this initial cohort, 71.2% of participants are female, with a median age of 44.9 years at recruitment. Over 60% of the cohort are non-white British, with 23.5% identifying as Asian or Asian British, 16.2% as Black, African, Caribbean or Black British and 20.9% identifying as having mixed or other backgrounds. The median age at first symptom is 28 years, and median age at diagnosis is 32 years. 76.8% have relapsing–remitting MS, and 13.5% have secondary progressive MS. Future plans Recruitment will continue over the next 10 years. Genotyping and genetic data quality control are ongoing. Within the next 3 years, we aim to perform initial genetic analyses of susceptibility and severity with a view to replicating the findings from European-ancestry studies. In the long term, genetic data will be combined with other datasets to further cross-ancestry genetic discoveries.

Association (psychology)

Genome-wide Association Study

Genetic Association

10.1136/bmjopen-2023-071656

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Genetic determinants of Multiple Sclerosis susceptibility in diverse ancestral backgrounds

medRxiv (Cold Spring Harbor Laboratory) (2025)

Bette Jacobs Luisa Schalk Emily Tregaskis-Daniels Antonio Scalfari Ashwini Nandoskar

The genetic architecture of Multiple Sclerosis (MS) susceptibility has been extensively assessed in populations of European ancestry. Greater ancestral diversity in genetic analyses of MS susceptibility is needed to improve the utility of Multiple Sclerosis genetic risk scores, fine map causal variants underlying established associations, and thereby enhance the identification of drug targets. Here we report findings from a genetic study of Multiple Sclerosis susceptibility in an ancestrally-diverse United Kingdom-based cohort. Participants with Multiple Sclerosis were recruited via clinical sites, an online platform, and through the United Kingdom Multiple Sclerosis Register. Phenotype data were gathered using a standardised questionnaire. DNA was extracted from saliva samples obtained remotely or in person, and participants were genotyped using a commercial genotyping array. Following imputation, cases were combined with controls from the United Kingdom Biobank and subjected to stringent quality control and genetic ancestry inference. We defined two broad ancestral groups of South Asian and African ancestry. We performed within-ancestry case-control genome-wide association studies of Multiple Sclerosis susceptibility using logistic models accounting for population structure and sex. We examined both single nucleotide variants and imputed classical Human Leukocyte Antigen alleles. We curated two ancestrally-matched case-control genetic datasets (South Asian ancestry: NCase=175, NControl=6744; African ancestry: NCase=113, NControl=5177). In both ancestries, we found genetic variants within the Major Histocompatibility Complex associated with Multiple Sclerosis susceptibility (South Asian ancestry: lead variant chr6:32600515:G:A on hg38 co-ordinates, Odds Ratio=1.84, nearest gene HLA-DRB1, P=4.6x10-6; African ancestry: lead variant chr6:29919337:A:G, Odds Ratio=2.24, nearest gene HLA-A P=4.3x10-5). European-ancestry susceptibility alleles were over-represented in cases from both ancestries, with the degree of concordance stronger for the South Asian (ρ=0.31, P=8.1x10-6) than African (ρ=0.1, P=0.3) ancestry cohort. European-derived genetic risk scores performed better than chance but less well than in European ancestry cohorts, explaining 1.6% (South Asian, P=1.0x10-4) and 0.5% (African, P=0.08) of the liability to MS. The genetic architecture of MS susceptibility shows strong concordance across ancestral groups suggesting shared disease mechanisms. Larger studies in diverse populations are likely to enhance our understanding of how genetic variation contributes to MS susceptibility in people of all ancestral backgrounds.

10.1101/2025.01.16.25320672

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037 Apparent homozygous c.830G>A GNE myopathy in non-jewish Iraqi

Journal of Neurology Neurosurgery & Psychiatry (2022)

Nicholas Keyi Sim Azzam Ismail Mark Busby Cord Spilker

GNE myopathy is an adult-onset autosomal recessive distal myopathy uniquely characterised by quadri- ceps sparing. It was previously described in Japanese patients and a large ethnic cluster was identified in Jews originating from Iran. Since then, it is recognised to have a worldwide prevalence with multiple pathogenic variants. While compound heterozygous c.830G>A GNE myopathy has previously been reported, homozygous disease has only previously been reported in a non-Jewish Iranian cohort and the Indian subcontinent. Here we report a case of apparent homozygous c.830G>A GNE myopathy in a non-Jewish Iraqi patient.

Compound heterozygosity

Indian subcontinent

10.1136/jnnp-2022-abn2.81

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

BMJ Open (2024)

James Blackstone Thomas Williams Jennifer Nicholas Ekaterina Bordea Floriana De Angelis

Introduction There remains a high unmet need for disease-modifying therapies that can impact disability progression in secondary progressive multiple sclerosis (SPMS). Following positive results of the phase 2 MS-STAT study, the MS-STAT2 phase 3 trial will evaluate the efficacy and cost-effectiveness of repurposed high-dose simvastatin in slowing the progression of disability in SPMS. Methods and analysis MS-STAT2 will be a multicentre, randomised, placebo-controlled, double-blind trial of participants aged between 25 and 65 (inclusive) who have SPMS with an Expanded Disability Status Scale (EDSS) score of 4.0–6.5 (inclusive). Steady progression rather than relapse must be the major cause of increasing disability in the preceding 2 years. Participants will be allocated to simvastatin or placebo in a 1:1 ratio. The active treatment will be 80 mg daily, after 1 month at 40 mg daily. 31 hospitals across the UK will participate. The primary outcome is (confirmed) disability progression at 6 monthly intervals, measured as change from EDSS baseline score. Recruitment of 1050 participants will be required to achieve a total of 330 progression events, giving 90% power to demonstrate a 30% relative reduction in disability progression versus placebo. The follow-up period is 36 months, extendable by up to 18 months for patients without confirmed progression. Clinician-reported measures include Timed 25 Foot Walk; 9 Hole Peg Test; Single Digit Modalities Test; Sloan Low Contrast Visual Acuity; Relapse assessment; modified Rankin Scale and Brief International Cognitive Assessment For Multiple Sclerosis. Patient-reported outcomes include MS-specific walking, fatigue and impact scales. A health economic analysis will occur. Ethics and dissemination The protocol was approved by the London-Westminster REC (17/LO/1509). This manuscript is based on protocol version 8.0, 26 February 2024. Trial findings will be disseminated through peer-reviewed publications and conference presentations. Trial registration numbers NCT03387670 ; ISRCTN82598726 .

Secondary Prevention

10.1136/bmjopen-2024-086414

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