MedPath

Clinical and Immunogenetic Characterization of Giant Cell Arteritis (GCA) and Polymyalgia Rheumatica (PMR)

Recruiting
Conditions
Polymyalgia Rheumatica
Giant Cell Arteritis
Registration Number
NCT04102930
Lead Sponsor
University of Leeds
Brief Summary

A multi-centre observational study recruiting prospective and retrospective cohorts of patients with polymyalgia rheumatica (PMR) and giant cell arteritis (GCA). The primary aim is to find genetic determinants of GCA and PMR susceptibility, in order to yield novel insights into disease pathogenesis. A subset of the retrospective cohort is also enrolled in a post-marketing surveillance registry of patients eligible for, or receiving tocilizumab, to treat their relapsing or refractory GCA.

Detailed Description

Giant cell arteritis (GCA), also known as temporal arteritis, is the most common form of primary systemic vasculitis, with up to 75,000 cases a year identified in the EU and US. It occurs almost exclusively in people over the age of 50 years and is considered to be a medical emergency. If not treated with high-dose glucocorticoids immediately, the thickening of the inflamed blood vessel wall can cause irreversible visual loss or stroke. GCA can lead to significant morbidity across a variety of systems, due to both the disease, and complications of treatment. Diagnosis may be confirmed with a temporal artery biopsy, imaging (e.g. USS/CT/MRA/PET-CR) or based on clinical signs (e.g. erythrocyte sedimentation rate) and symptoms (e.g. a new headache, jaw claudication, visual disturbances, temporal artery abnormality such as tenderness or decreased pulsation) .

Polymyalgia rheumatica (PMR) is characterised by inflammatory limb-girdle pain with early morning stiffness, and a systemic inflammatory response demonstrated by elevated inflammatory markers.

The UK GCA Consortium is a multi-centre observational study, the main arms of which recruit prospective (participants with suspected GCA) and retrospective cohorts (participants with confirmed GCA diagnosis). Analysis of data collected on these cohorts will help achieve the primary aim of finding genetic determinants of GCA and PMR susceptibility, in order to yield novel insights into disease pathogenesis. Secondary aims, and their associated analyses, are as follows:

* Phenotype: characterising GCA and PMR subtypes, based on clinical features; imaging; cells; subcellular fractions and molecules in the circulation and/or arterial tissue; genetic/epigenetic/transcriptomic/proteomic or metabolomics factors, including next generation sequencing (whole exome sequencing) of selected cases.

* Life impact: determining what aspects of the disease and treatments affect patients' quality of life, as assessed by patient-reported outcomes.

* Long-term outcomes: characterising prognosis of GCA and PMR - both effects of the disease and its treatment - by longitudinal follow-up through electronic linkage to health records.

* Exploratory analyses: exploring the potential role of environmental factors and co-morbidities on phenotype and outcomes.

* Diagnosis, prognosis: improving diagnosis of GCA and PMR, and identifying factors that predict diagnosis, such as diagnostic clinical features, and prognostic and diagnostic biomarkers.

* Disease activity: monitoring participants who commence a synthetic or biological disease-modifying anti-rheumatic drug (s/bDMARD). Finding a biomarker for GCA and PMR disease activity, which might be clinically useful in helping to optimise steroid and s/bDMARD treatments for individual patients.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
4500
Inclusion Criteria
  • Willing to self-identify an ethnic group, such as Caucasian, Asian, Afro-Caribbean.
  • Have a firm clinical diagnosis of GCA or PMR, or (for patients identified prospectively) GCA or PMR should be more likely than any alternative explanation for the patient's symptoms.
  • Able and willing to give informed consent. Patients will be 50 years of age or over, unless both biopsy-proven and a clinically classical case of GCA.
Exclusion Criteria

• Patient unwilling or unable to give fully informed consent.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Primary outcome for genetic susceptibility studies:At baseline

Diagnosis of GCA (or PMR), confirmed by a specialist (e.g. rheumatologist, ophthalmologist) with relevant expertise.

Secondary Outcome Measures
NameTimeMethod
PhenotypeAt baseline

Clinical phenotype or subtype of GCA/PMR based on disease features and imaging undertaken as part of routine clinical practice, and on research tests, such as imaging performed for research purposes, cells, subcellular fractions and molecules in the circulation and/or arterial tissue and genetic/ epigenetic/ transcriptomic/ proteomic or metabolomic factors, including next generation sequencing (whole exome sequencing) of selected cases.

Life impact questionnairesAt baseline

Assessment of the impact the disease and treatment has on the patients' lives as reported by the patient

Disease activity defined as an increase in clinical and patient reported activity of diseaseAt baseline

Participants commencing a synthetic or biological disease modifying anti-rheumatic drug with or without additional steroid therapy will have their disease activity assessed.

Long term outcomesAt baseline

Longitudinal follow-up of patients (as far as is possible from medical and electronic records and without requiring additional study visits) to define prognosis/disease outcomes, such as ischaemic manifestations, aneurysm formation, duration of steroid therapy, disease flares, complications related to steroid therapy.

Exploratory analysesAt baseline

To investigate role of genetics, environmental factors (e.g. diet and sunlight) and co-morbidities (e.g. periodontal disease) on disease phenotype and outcome as assessed by the patient-administered questionnaires.

Proteomic and genomic analyses on serum, plasma and urine samples.At baseline

A variety of 'omic technologies will be applied to cell populations isolated from the blood and/or routine diagnostic arterial biopsies, including, but not limited to, RNASeq and a variety of proteomic approaches.

Diagnosis of GCA/PMRThrough study completion, an average of 1 year

Diagnosis in patients presenting with suspected GCA/PMR (prospective study).

Trial Locations

Locations (76)

Queen Elizabeth The Queen Mother Hospital

🇬🇧

Canterbury, Kent, United Kingdom

Whiston Hospital

🇬🇧

Prescot, Merseyside, United Kingdom

Nevill Hall Hospital, Aneurin Bevan University Health Board

🇬🇧

Abergavenny, United Kingdom

Stoke Mandeville Hospital, Buckinghamshire Healthcare NHS Trust

🇬🇧

Aylesbury, United Kingdom

Betsi Cadwaladr University Health Board

🇬🇧

Bangor, United Kingdom

Barnsley Hospital, Barnsley Hospital NHS Foundation Trust

🇬🇧

Barnsley, United Kingdom

Basildon University Hospital, Basildon and Thurrock University Hospitals NHS Foundation Trust

🇬🇧

Basildon, United Kingdom

Basingstoke and North Hampshire Hospital, Hampshire Hospitals NHS Foundation Trust

🇬🇧

Basingstoke, United Kingdom

Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Bath NHS Foundation Trust

🇬🇧

Bath, United Kingdom

Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust

🇬🇧

Birmingham, United Kingdom

Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust

🇬🇧

Birmingham, United Kingdom

Bristol Royal Infirmary, University Hospitals Bristol NHS Foundation Trust

🇬🇧

Bristol, United Kingdom

Queen's Hospital, University Hospitals of Derby and Burton NHS Foundation Trust

🇬🇧

Burton Upon Trent, United Kingdom

West Suffolk Hospital, West Suffolk NHS Foundation Trust

🇬🇧

Bury Saint Edmunds, United Kingdom

Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust

🇬🇧

Cambridge, United Kingdom

Chelsea and Westminster Hospital, Chelsea and Westminster Hospital NHS Foundation Trust

🇬🇧

Chelsea, United Kingdom

West Middlesex University Hospital, Chelsea and Westminster Hospital NHS Foundation Trust

🇬🇧

Chelsea, United Kingdom

Ashford and St Peter's Hospitals, Ashford & St Peter's Hospitals NHS Foundation Trust

🇬🇧

Chertsey, United Kingdom

Countess of Chester Hospital, Countess of Chester NHS Foundation Trust

🇬🇧

Chester, United Kingdom

Christchurch Hospital, University Hospitals Dorset NHS Foundation Trust

🇬🇧

Christchurch, United Kingdom

Croydon University Hospital, Croydon Health Service NHS Trust

🇬🇧

Croydon, United Kingdom

Darlington Memorial Hospital, County Durham and Darlington NHS Foundation Trust

🇬🇧

Darlington, United Kingdom

Royal Derby Hospital, University Hospitals of Derby and Burton NHS Foundation Trust

🇬🇧

Derby, United Kingdom

Doncaster Royal Infirmary, Doncaster and Bassetlaw Hospitals NHS Foundation Trust

🇬🇧

Doncaster, United Kingdom

Ninewells Hospital and Medical School, NHS Tayside

🇬🇧

Dundee, United Kingdom

Royal Devon and Exeter Hospital, Royal Devon and Exeter NHS Foundation Trust

🇬🇧

Exeter, United Kingdom

Frimley Park Hospital, Frimley Park Hospital NHS Foundation Trust

🇬🇧

Frimley, United Kingdom

Inverclyde Royal Hospital, NHS Greater Glasgow and Clyde

🇬🇧

Glasgow, United Kingdom

Gateshead Queen Elizabeth Hospital, Gateshead Health NHS Foundation Trust

🇬🇧

Gateshead, United Kingdom

Royal Alexandra Hospital, NHS Greater Glasgow and Clyde

🇬🇧

Glasgow, United Kingdom

Vale of Leven Hospital, NHS Greater Glasgow and Clyde

🇬🇧

Glasgow, United Kingdom

James Paget Hospital, James Paget University Hospitals NHS Foundation Trust

🇬🇧

Great Yarmouth, United Kingdom

Royal Surrey County Hospital, Royal Surrey County Hospital NHS Foundation Trust

🇬🇧

Guildford, United Kingdom

Harrogate and District Hospital, Harrogate and District NHS Foundation Trust

🇬🇧

Harrogate, United Kingdom

Hull Royal Infirmary, Hull and East Yorkshire NHS Trust

🇬🇧

Hull, United Kingdom

Ipswich Hospital, East Suffolk and North Essex NHS Foundation Trust

🇬🇧

Ipswich, United Kingdom

Airedale General Hospital, Airedale NHS Foundation Trust

🇬🇧

Keighley, United Kingdom

Westmorland General Hospital, University Hospitals of Morecambe Bay NHS Foundation Trust

🇬🇧

Kendal, United Kingdom

The Queen Elizabeth Hospital, The Queen Elizabeth Hospital Kings Lynn NHS Foundation Trust

🇬🇧

Kings Lynn, United Kingdom

Royal Lancaster Infirmary, University Hospitals of Morecambe NHS Foundation Trust

🇬🇧

Lancaster, United Kingdom

Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Foundation Trust

🇬🇧

Leeds, United Kingdom

Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust

🇬🇧

Leicester, United Kingdom

Aintree University Hospital, Aintree University Hospitals NHS Trust

🇬🇧

Liverpool, United Kingdom

Royal Glamorgan Hospital, Cwm Taf University Health Board

🇬🇧

Llantrisant, United Kingdom

Hammersmith Hospital, Imperial College Healthcare NHS Trust

🇬🇧

London, United Kingdom

King's College Hospital, King's College Hospital NHS Foundation Trust, London

🇬🇧

London, United Kingdom

Royal Free Hospital, Royal Free NHS Foundation Trust

🇬🇧

London, United Kingdom

St George's Hospital, St George's University Hospitals NHS Foundation Trust

🇬🇧

London, United Kingdom

University College London Hospital, University College London NHS Foundation Trust

🇬🇧

London, United Kingdom

Manchester Royal Infirmary, Manchester University NHS Foundation Trust

🇬🇧

Manchester, United Kingdom

Freeman Hospital, The Newcastle-upon-Tyne Hospitals NHS Foundation Trust

🇬🇧

Newcastle, United Kingdom

North Tyneside General Hospital, Northumbria Healthcare NHS Foundation Trust

🇬🇧

North Shields, United Kingdom

Northampton General Hospital, Northampton General Hospital NHS Trust

🇬🇧

Northampton, United Kingdom

Norfolk and Norwich University Hospital, Norfolk and Norwich University Hospitals NHS Foundation Trust

🇬🇧

Norwich, United Kingdom

Queens Medical Centre, Nottingham University Hospitals NHS Trust

🇬🇧

Nottingham, United Kingdom

Oxford Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust

🇬🇧

Oxford, United Kingdom

Peterborough City Hospital, North West Anglia NHS Foundation Trust

🇬🇧

Peterborough, United Kingdom

Derriford Hospital, University Hospital Plymouth NHS Trust

🇬🇧

Plymouth, United Kingdom

Poole Hospital, University Hospitals Dorset NHS Foundation Trust

🇬🇧

Poole, United Kingdom

Minerva Health Centre, Lancashire and South Cumbria NHS Foundation Trust

🇬🇧

Preston, United Kingdom

Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust

🇬🇧

Preston, United Kingdom

Salford Royal Hospital, Salford Royal NHS Foundation Trust

🇬🇧

Salford, United Kingdom

Scarborough General Hospital, York and Scarborough Teaching Hospitals NHS Foundation Trust

🇬🇧

Scarborough, United Kingdom

Southend University Hospital, Southend University Hospital NHS Foundation Trust

🇬🇧

Southend-on-Sea, United Kingdom

Lister Hospital, East and North Hertfordshire NHS Trust

🇬🇧

Stevenage, United Kingdom

Haywood Hospital, Midlands Partnership NHS Foundation Trust

🇬🇧

Stoke-on-Trent, United Kingdom

Great Western Hospital, The Great Western Hospitals NHS Foundation Trust

🇬🇧

Swindon, United Kingdom

Torbay Hospital, Torbay and South Devon NHS Foundation Trust

🇬🇧

Torquay, United Kingdom

Royal Cornwall Hospital, Royal Cornwall Hospitals NHS Trust

🇬🇧

Truro, United Kingdom

Pinderfields Hospital, Mid Yorkshire Hospitals NHS Trust

🇬🇧

Wakefield, United Kingdom

Warrington Hospital, Warrington and Halton Hospitals NHS Foundation Trust

🇬🇧

Warrington, United Kingdom

Warwick Hospital, South Warwickshire NHS Foundation Trust

🇬🇧

Warwick, United Kingdom

Royal Hampshire County Hospital, Hampshire Hospitals NHS Foundation Trust

🇬🇧

Winchester, United Kingdom

Arrowe Park Hospital, Wirral University Hospital NHS Foundation Trust

🇬🇧

Wirral, United Kingdom

University Hospital Wishaw, NHS Lanarkshire

🇬🇧

Wishaw, United Kingdom

York Hospital, York and Scarborough Teaching Hospitals NHS Foundation Trust

🇬🇧

York, United Kingdom

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