Gaucherite - A Study to Stratify Gaucher Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorCambridge University Hospitals NHS Foundation Trust
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
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 population
Seven (previously eight) specialized centres for Gaucher disease in England will recruit approximately 280 patients.
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Stratified response to Enzyme Therapy
Other interventionObservational study involves review of retrospective and prospective data of participants' medical history, pathology, imaging and health questionnaires.
Treatment groups
250 Participants
are divided into 2 treatment groupsGroup A: Patients Type III1 intervention
Group B: Patients Type I1 intervention
Trial outcomes
Primary outcomes
1
Neurological outcome
Presence of saccadic ocular deficits
Time frame
20292
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.
Time frame
20293
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.
Time frame
20294
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.
Time frame
2029Secondary outcomes
1
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.
Time frame
20292
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.
Time frame
20293
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
Time frame
20294
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
Time frame
2029Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Cambridge University Hospitals NHS Foundation Trust
Lead sponsor
Medical Research Council
Collaborator
National Institute for Health Research, United Kingdom
Collaborator
Source ClinicalTrials.gov