Study Results
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Basic Information
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RECRUITING
250 participants
OBSERVATIONAL
2014-01-01
2028-12-31
Brief Summary
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Detailed Description
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In Gaucher Disease Type 3 the brain and spinal cord are affected. Type 3 is rare and affects fewer than 1 in 100,000 people. The brain and spinal cord symptoms in Type 3 are less severe than in those who have evidence of florid neurologocal disease in infancy years of age. The symptoms of the brain and spinal cord appear in early to late childhood, and patients with Type 3 Gaucher disease live often, but not always, well into adulthood.
Gaucher disease is not gender-specific and its signs and symptoms may appear in affected individuals at any age, with Type 3 being commonly diagnosed in childhood. Although individuals from any ethnic background may develop Gaucher disease, Type 1 Gaucher disease is most common among Jews of Ashkenazi (Eastern European) descent. Among this group, about 1 in 900 people are at risk of Gaucher disease.
There are approximately 280 people in England diagnosed with Gaucher Disease, who receive treatment or management at one of the treating hospitals.
Patients with Gaucher disease have an increased risk of developing myeloma and Parkinson's disease. Myeloma, also known as multiple myeloma, is a type of bone marrow cancer affecting the white blood cells of the immune system which generate antibodies. Approximately 1 in 10 Gaucher patients have a specific blood protein - a monoclonal antibody called a paraprotein, which is found in both malignant and non-malignant conditions, including myeloma.
Parkinson disease is a neurological condition which develops over time as specific brain cells that control movement, die. The failure to produce less of a chemical called dopamine, reduces communication between brain cells involved in the coordination of movement, behaviour, learning and memory.
The investigators will collect information from patients diagnosed with Gaucher disease and any of the conditions mentioned above (for which the patient is already being monitored). Further information required about their clinical status will be obtained from their past and on-going medical records; this will be done as the participants attend hospital as part of their routine care for Gaucher disease. The information we need for the research is no different from the information which is already recorded and will be recorded in their medical notes when they come to the hospital for their routine care, every 6 months.
For the purpose of this study, the investigators will take a few extra blood samples from the participant. These samples will be used to conduct biochemical and cellular analysis solely for the purpose of this research.
The Investigators also request permission from participants to allow access and use for the purpose of the research any archived biological material (blood serum and/or tissue) which may be available from the medical procedures that has been received in the past.
In addition, for the purpose of this research, at each visit, investigators request that the participant also completes questionnaires about physical and social abilities, mental health and quality of life.
All the research-specific procedures (i.e. procedures that the participant would not normally receive during their standard of care hospital visits) can be carried out at either their routine clinic appointments or at another time that the participant would find convenient.
Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Patients Type III
Stratified response to EnzymeTherapy Substrate Reduction Therapy (expected) Splenectomy (and interactions)
Stratified response to Enzyme Therapy
Observational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires.
Patients Type I
Stratified response to Enzyme Therapy and Substrate Reduction Therapy- Splenectomy (and interactions)
Stratified response to Enzyme Therapy
Observational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires.
Interventions
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Stratified response to Enzyme Therapy
Observational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
1. Confirmed biochemical diagnosis of Type I, Type II or Type III Gaucher disease
2. Written Ethics Committee (EC) approved informed consent obtained from the patient, or patient's parent or legal guardian and patient assent if appropriate
3. Male or Female patients, no age limitation
4. Willing and able to comply with study schedule and procedures
5. Deceased patients for whom the EC determines that patient data can be collected without a new consent from the patient
Exclusion Criteria
1. Unrelated co-morbid condition limiting life expectancy to less than 6 months
2. Patient or if applicable, parent or legal guardian is unable to comprehend, sign and date the EC approved informed consent form and patient assent as appropriate
3. If determined unsuitable for the study by the investigator
ALL
No
Sponsors
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Medical Research Council
OTHER_GOV
National Institute for Health Research, United Kingdom
OTHER_GOV
Cambridge University Hospitals NHS Foundation Trust
OTHER
Responsible Party
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Timothy Cox MD
Professor of Medicine Emeritus, Director of Research, Honorary Consultant
Principal Investigators
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Timothy M Cox, MD
Role: PRINCIPAL_INVESTIGATOR
University of Cambridge
Locations
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Birmingham Childrens Hospital
Birmingham, , United Kingdom
New Queen Elizabeth Hospital
Birmingham, , United Kingdom
Cambridge University Hospital
Cambridge, , United Kingdom
Great Ormond Street Hospital
London, , United Kingdom
National Hospital for Neurology and Neurosurgery
London, , United Kingdom
Royal Free Hospital
London, , United Kingdom
Royal Manchester Childrens Hospital
Manchester, , United Kingdom
Salford Royal NHS Foundation Trust
Salford, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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References
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D'Amore S, Page K, Donald A, Taiyari K, Tom B, Deegan P, Tan CY, Poole K, Jones SA, Mehta A, Hughes D, Sharma R, Lachmann RH, Chakrapani A, Geberhiwot T, Santra S, Banka S, Cox TM; MRC GAUCHERITE Consortium. In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet J Rare Dis. 2021 Oct 14;16(1):431. doi: 10.1186/s13023-021-02034-6.
Donald A, Bjorkvall CK, Vellodi A; GAUCHERITE Consortium; Cox TM, Hughes D, Jones SA, Wynn R, Machaczka M. Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease. Orphanet J Rare Dis. 2022 Jun 18;17(1):234. doi: 10.1186/s13023-022-02378-7.
Donald A, Tan CY, Chakrapani A, Hughes DA, Sharma R, Cole D, Bardins S, Gorges M, Jones SA, Schneider E. Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease. Orphanet J Rare Dis. 2020 Dec 17;15(1):349. doi: 10.1186/s13023-020-01637-9.
Adusumilli G, Kaggie JD, D'Amore S, Cox TM, Deegan P, MacKay JW, McDonald S; GAUCHERITE Consortium. Improving the quantitative classification of Erlenmeyer flask deformities. Skeletal Radiol. 2021 Feb;50(2):361-369. doi: 10.1007/s00256-020-03561-2. Epub 2020 Jul 30.
Yu B, Whitmarsh T, Riede P, McDonald S, Kaggie JD, Cox TM, Poole KES, Deegan P; MRC Gaucherite consortium. Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease. Bone. 2024 Sep;186:117142. doi: 10.1016/j.bone.2024.117142. Epub 2024 Jun 2.
Donald A, Jones SA, Hughes DA, Church HJ; GAUCHERITE Consortium; Cox TM. Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort. Genet Med. 2025 Sep;27(9):101502. doi: 10.1016/j.gim.2025.101502. Epub 2025 Jun 18.
D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators. Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. Radiology. 2023 Apr;307(1):e212779. doi: 10.1148/radiol.212779. Epub 2022 Dec 20.
Other Identifiers
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MR/K015338/1
Identifier Type: -
Identifier Source: org_study_id
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