Gaucher Disease, Type IGaucheriteNCT03240653
Gaucherite - A Study to Stratify Gaucher Disease
An observational study of Gaucher Disease, Type I and Gaucher Disease, Type III, run by Cambridge University Hospitals NHS Foundation Trust at 8 sites in United Kingdom.
Trial summary
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of Gaucher disease especially in the areas of bone, cancer and brain conditions. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher Disease, Type I, Gaucher Disease, Type III
- What is being tested?
- Stratified response to Enzyme Therapy
- How many people
- 250 participants
- Where
- 8 sitesUnited Kingdom
- Study dates
- 1 Jan 2014to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Seven (previously eight) specialized centres for Gaucher disease in England will recruit approximately 280 patients.
Who may be able to join
- Each patient must meet all of the following criteria to be enrolled in this study:
- Confirmed biochemical diagnosis of Type I, Type II or Type III Gaucher disease
- Written Ethics Committee (EC) approved informed consent obtained from the patient, or patient's parent or legal guardian and patient assent if appropriate
- Male or Female patients, no age limitation
- Willing and able to comply with study schedule and procedures
- Deceased patients for whom the EC determines that patient data can be collected without a new consent from the patient
Who cannot join
- Patients meeting any of the following criteria will be excluded from the study:
- Unrelated co-morbid condition limiting life expectancy to less than 6 months
- 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
- If determined unsuitable for the study by the investigator
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
8 sites in 1 country
United Kingdom8 sites, 7 recruiting
- Terminated
Birmingham Childrens Hospital
Birmingham
- Recruiting
New Queen Elizabeth Hospital
Birmingham
Kathy Page, BSc(Hons), 01223 767899, kp429@medschl.cam.ac.uk
Tarekegn Hiwot
- Recruiting
Cambridge University Hospital
Cambridge
Liz M Morris, RN, +441223-274634, Liz.morris@addenbrookes.nhs.uk
Patrick Deegan, MD
- Recruiting
Great Ormond Street Hospital
London
Kathy Page, BSc (Hons), 01223767899, kp429@medschl.cam.ac.uk
Anupam Chakrapani
- Recruiting
National Hospital for Neurology and Neurosurgery
London
Kathy Page, BSc(Hons), 01223 767899, kp429@medschl.cam.ac.uk
Robin Lachmann
- Recruiting
Royal Free Hospital
London
Kathy Page, BSc (Hons), 01223767899, kp429@medschl.cam.ac.uk
Derralynn Hughes
- Recruiting
Royal Manchester Childrens Hospital
Manchester
Kathy Page, BSc (Hons), 01223 767899, kp429@medschl.cam.ac.uk
Simon Jones
- Recruiting
Salford Royal NHS Foundation Trust
Salford
Kathy Page, BSc(Hons), 01223 767899, kp429@medschl.cam.ac.uk
Reena Sharma
About this study
Official title: Predictive Measures to Stratify Clinical Outcomes in Children and Adults With Gaucher Disease and Responses to Specific Therapies
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of Gaucher disease especially in the areas of bone, cancer and brain conditions.
Read the detailed description
Gaucher disease is part of a rare group of genetic metabolic diseases which are caused by an inherited deficiency of the enzyme glucocerebrosidase. The most common form, Type 1 affects 1 in 40,000 to 60,000 individuals in the general population. In Type 1 symptoms may appear at any time from infancy to old age. The disease is associated with anaemia (a decrease in the amount of red blood cells), fatigue (tiredness), bruising and an increased tendency to bleed. An enlarged spleen and liver with stomach swelling may also occur as well as bone pain, fractures and bone deterioration. Type 1 was formerly considered not to affect the brain or nervous system. Some patients with Type 1 Gaucher disease have no symptoms, while others develop serious symptoms that can be life threatening; latterly Parkinsonism and Dementia with Lewy bodies has been noted to occur with increased frequency in patients with this variant of Gaucher disease compared with healthy control subjects in an age-matched population.
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
- Gaucher Disease, Type I, Gaucher Disease, Type III
- Being tested
- Stratified response to Enzyme Therapy
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Stratified response to Enzyme TherapyOther
Also called Stratified response to Substrate Reduction Therapy, Splenectormy
Observational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires.
| Study group | Role | What they receive |
|---|---|---|
| Patients Type III | Stratified response to EnzymeTherapy Substrate Reduction Therapy (expected) Splenectomy (and interactions) Receives: Other: Stratified response to Enzyme Therapy | |
| Patients Type I | Stratified response to Enzyme Therapy and Substrate Reduction Therapy- Splenectomy (and interactions) Receives: Other: Stratified response to Enzyme Therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurological outcome
Presence of saccadic ocular deficits
Measured: 2029
Fragility Fracture
Dual energy absorptive photiometry (DEXA) will allow us to measure the bone mineral density (BMD g/cm2) to enable stratification into treatment strands and predict and prevent future fragility fractures.
Measured: 2029
Disease Severity
Biochemical biomarkers (PARC/CCL18 ng/ml and Chitotriosidase umol/L/h) will be used to perform decease severity and follow-up response to treatment.
Measured: 2029
Bone Marrow Involvement
MRI will allow us to assess the extent of Bone Marrow involvement and thus response to treatment by using the Bone Marrow Burden Score (BMB). The BMB is a semi quantitative MRI scoring system, using the sagittal T1 and T2 images of the lumbar spine and the coronal T1 and T2 of the femurs.
Measured: 2029
Bone avascular necrosis
MRI will allow us to assess new avascular necrosis events (osteonecrosis).
Measured: 2029
Cognitive Function
Frontal Assessment Battery (FAB) is used to assess early cognitive impairment in Type III patients and patients with diagnosis of Parkinson disease.
Measured: 2019
Cognitive Function
Addenbrooke's Cognitive Examination - ACE-R and National Adult Reading Test are used in combinations to establish attention and orientation, memory, fluency, language and visuospatial orientation
Measured: 2029
Neurological Physical Assessment
Modified Severity Scoring Tool (MSSt) is used to monitor neurological manifestations of NGD (Type III).
Measured: 2029
Multiple Myeloma
Characterisation of new biomarkers in the peripheral blood mononuclear cells. (PBMCs), lipid analysis and Metabolomics screen.
Measured: 2029
Secondary outcomes (8)
Quality of life and disease severity measures
SF36; will be used to assess the patient reported quality of life. It is a generic measure of health status, as opposed to one that targets a specific age, disease, or treatment group. It has proven useful for conducting surveys of general and specific populations, comparing the relative burden of diseases, and differentiating the health benefits produced by a wide range of treatments.
Measured: 2029
Quality of life and disease severity measures
EQ5D5L; the dimensions are (mobility, self care, usual activities, pain/discomfort, anxiety/depression). it provides a simple descriptive profile and a single index value for health status that can be used in the clinical and economic evaluation of health. This tool will help facilitating the calculation of quality-adjusted life years (QALYs) that are used to inform economic evaluations of health care interventions.
Measured: 2029
Quality of life and disease severity measures
Hospital anxiety \& depression scale (HADs); Assist researchers in detection of emotional disorder in patients under investigation and treatment
Measured: 2029
Quality of life and disease severity measures
PedsQL (multidimensional fatigue scale); Enable researcher to assess if there is a link to level of patient reported fatigue and disease severity
Measured: 2029
Quality of life and disease severity measures
PedsQL qual of life for paediatric ages. To assess participant reported quality of life.
Measured: 2029
Parkinson severity
Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is a clinical rating scale for Parkinson's disease (PD)
Measured: 2029
Biobank
Biobank storage of historical and prospective human samples.
Measured: 2020
EyeSeeCam
Objective quantifiable eye examination measuring eye movement
Measured: 2029
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Aug 2017
- Study start1 Jan 2014
- Primary completion30 Sep 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Gaucher Disease, Type IStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Cambridge University Hospitals NHS Foundation Trust
- Sponsor type
- University, hospital or other
- Collaborators
- Medical Research Council, National Institute for Health Research, United Kingdom
- Responsible party
- Principal investigator, Timothy Cox MD, Cambridge University Hospitals NHS Foundation Trust
- Investigators
- Timothy M Cox, MD, Principal investigator, University of Cambridge
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03240653
- Sponsor's protocol ID
- MR/K015338/1
- Acronym
- Gaucherite
- Status last verified
- Aug 2024
- First submitted
- 12 Jul 2017
- Last updated
- 6 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: A Data sharing policy will be developed at the end of the study. Researchers will be able to make ethically approved requests to the Data owners for specific data (a charge will be made). What data sets will be available has yet to be decided by the Gaucherite Consortium Group.
Publications
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.
PubMed 34649574Donald 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.
PubMed 35717194Donald 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.
PubMed 33334373Adusumilli 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.
PubMed 32734372Yu 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.
PubMed 38834102Donald 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.
PubMed 40542647D'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.
PubMed 36537898
Study at a glance
From the registry record, last updated by the sponsor on 6 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Predictive Measures to Stratify Clinical Outcomes in Children and Adults With Gaucher Disease and Responses to Specific Therapies
- ClinicalTrials.gov ID
- NCT03240653
- Acronym / sponsor ID
- Gaucherite / MR/K015338/1
- Conditions
- Gaucher Disease, Type I, Gaucher Disease, Type III
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Cambridge University Hospitals NHS Foundation TrustUniversity, hospital or other
- Collaborators
- Medical Research Council, National Institute for Health Research, United Kingdom
- Study start
- 1 Jan 2014 (actual)
- Primary completion
- 30 Sep 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 7 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of Gaucher disease especially in the areas of bone, cancer and brain conditions.
Detailed description
Gaucher disease is part of a rare group of genetic metabolic diseases which are caused by an inherited deficiency of the enzyme glucocerebrosidase. The most common form, Type 1 affects 1 in 40,000 to 60,000 individuals in the general population. In Type 1 symptoms may appear at any time from infancy to old age. The disease is associated with anaemia (a decrease in the amount of red blood cells), fatigue (tiredness), bruising and an increased tendency to bleed. An enlarged spleen and liver with stomach swelling may also occur as well as bone pain, fractures and bone deterioration. Type 1 was formerly considered not to affect the brain or nervous system. Some patients with Type 1 Gaucher disease have no symptoms, while others develop serious symptoms that can be life threatening; latterly Parkinsonism and Dementia with Lewy bodies has been noted to occur with increased frequency in patients with this variant of Gaucher disease compared with healthy control subjects in an age-matched population.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients Type III | – | Other: Stratified response to Enzyme TherapyStratified response to EnzymeTherapy Substrate Reduction Therapy (expected) Splenectomy (and interactions) |
| Patients Type I | – | Other: Stratified response to Enzyme TherapyStratified response to Enzyme Therapy and Substrate Reduction Therapy- Splenectomy (and interactions) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Seven (previously eight) specialized centres for Gaucher disease in England will recruit approximately 280 patients.
Key inclusion criteria (6 listed)
- Confirmed biochemical diagnosis of Type I, Type II or Type III Gaucher disease
- Written Ethics Committee (EC) approved informed consent obtained from the patient, or patient's parent or legal guardian and patient assent if appropriate
- Male or Female patients, no age limitation
- Willing and able to comply with study schedule and procedures
- Deceased patients for whom the EC determines that patient data can be collected without a new consent from the patient
Key exclusion criteria (4 listed)
- Unrelated co-morbid condition limiting life expectancy to less than 6 months
- 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
- If determined unsuitable for the study by the investigator
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Stratified response to Enzyme TherapyAlso: Stratified response to Substrate Reduction Therapy, SplenectormyObservational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires. | Other | Patients Type I, Patients Type III |
Primary outcome
Neurological outcome
Time frame: 2029
Presence of saccadic ocular deficits
Fragility Fracture
Time frame: 2029
Dual energy absorptive photiometry (DEXA) will allow us to measure the bone mineral density (BMD g/cm2) to enable stratification into treatment strands and predict and prevent future fragility fractures.
Disease Severity
Time frame: 2029
Biochemical biomarkers (PARC/CCL18 ng/ml and Chitotriosidase umol/L/h) will be used to perform decease severity and follow-up response to treatment.
Bone Marrow Involvement
Time frame: 2029
MRI will allow us to assess the extent of Bone Marrow involvement and thus response to treatment by using the Bone Marrow Burden Score (BMB). The BMB is a semi quantitative MRI scoring system, using the sagittal T1 and T2 images of the lumbar spine and the coronal T1 and T2 of the femurs.
Bone avascular necrosis
Time frame: 2029
MRI will allow us to assess new avascular necrosis events (osteonecrosis).
Cognitive Function
Time frame: 2019
Frontal Assessment Battery (FAB) is used to assess early cognitive impairment in Type III patients and patients with diagnosis of Parkinson disease.
Cognitive Function
Time frame: 2029
Addenbrooke's Cognitive Examination - ACE-R and National Adult Reading Test are used in combinations to establish attention and orientation, memory, fluency, language and visuospatial orientation
Neurological Physical Assessment
Time frame: 2029
Modified Severity Scoring Tool (MSSt) is used to monitor neurological manifestations of NGD (Type III).
Multiple Myeloma
Time frame: 2029
Characterisation of new biomarkers in the peripheral blood mononuclear cells. (PBMCs), lipid analysis and Metabolomics screen.
8 secondary outcomes
Quality of life and disease severity measures
Time frame: 2029
Quality of life and disease severity measures
Time frame: 2029
Quality of life and disease severity measures
Time frame: 2029
Quality of life and disease severity measures
Time frame: 2029
Quality of life and disease severity measures
Time frame: 2029
Parkinson severity
Time frame: 2029
Biobank
Time frame: 2020
EyeSeeCam
Time frame: 2029
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Aug 2024.
- Background: PubMed 34649574D'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.
- Background: PubMed 35717194Donald 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.
- Background: PubMed 33334373Donald 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.
- Background: PubMed 32734372Adusumilli 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.
- Background: PubMed 38834102Yu 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.
- Derived from this study: PubMed 40542647Donald 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.
- Derived from this study: PubMed 36537898D'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.
- Individual participant dataSharing planned: Yes. A Data sharing policy will be developed at the end of the study. Researchers will be able to make ethically approved requests to the Data owners for specific data (a charge will be made). What data sets will be available has yet to be decided by the Gaucherite Consortium Group.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Timothy M Cox, MD principal investigator
University of Cambridge
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, Type I and Gaucher Disease, Type III, run by Cambridge University Hospitals NHS Foundation Trust at 8 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Elizabeth M MORRIS, RN (+441223274634, liz.morris@addenbrookes.nhs.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurological outcome (time frame: 2029). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03240653, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Aug 2024.