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Trial record 2 of 60 for:    Stratify 1

Gaucherite - A Study to Stratify Gaucher Disease (Gaucherite)

This study is currently recruiting participants.
See Contacts and Locations
Verified August 2017 by Prof Timothy Cox, Cambridge University Hospitals NHS Foundation Trust
Sponsor:
Collaborators:
Medical Research Council
National Institute for Health Research, United Kingdom
Information provided by (Responsible Party):
Prof Timothy Cox, Cambridge University Hospitals NHS Foundation Trust
ClinicalTrials.gov Identifier:
NCT03240653
First received: July 12, 2017
Last updated: August 11, 2017
Last verified: August 2017
  Purpose
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.

Condition Intervention
Gaucher Disease, Type 1 Gaucher Disease, Type 3 Other: Stratified response to Enzyme Therapy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Predictive Measures to Stratify Clinical Outcomes in Children and Adults With Gaucher Disease and Responses to Specific Therapies

Resource links provided by NLM:


Further study details as provided by Prof Timothy Cox, Cambridge University Hospitals NHS Foundation Trust:

Primary Outcome Measures:
  • Neurological outcome [ Time Frame: 2020 ]
    Presence of saccadic ocular deficits

  • Fragility Fracture [ Time Frame: 2020 ]
    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: 2020 ]
    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: 2020 ]
    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: 2020 ]
    MRI will allow us to assess new avascular necrosis events (osteonecrosis).

  • Cognitive Function [ Time Frame: 2020 ]
    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: 2020 ]
    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: 2020 ]
    Modified Severity Scoring Tool (MSSt) is used to monitor neurological manifestations of NGD (Type III).

  • Multiple Myeloma [ Time Frame: 2020 ]
    Characterisation of new biomarkers in the peripheral blood mononuclear cells. (PBMCs), lipid analysis and Metabolomics screen.


Secondary Outcome Measures:
  • Quality of life and disease severity measures [ Time Frame: 2020 ]
    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.

  • Quality of life and disease severity measures [ Time Frame: 2020 ]
    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.

  • Quality of life and disease severity measures [ Time Frame: 2020 ]
    Hospital anxiety & depression scale (HADs); Assist researchers in detection of emotional disorder in patients under investigation and treatment

  • Quality of life and disease severity measures [ Time Frame: 2020 ]
    PedsQL (multidimensional fatigue scale); Enable researcher to assess if there is a link to level of patient reported fatigue and disease severity

  • Quality of life and disease severity measures [ Time Frame: 2020 ]
    PedsQL qual of life for paediatric ages. To assess participant reported quality of life.

  • Parkinson severity [ Time Frame: 2020 ]
    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)

  • Biobank [ Time Frame: 2020 ]
    Biobank storage of historical and prospective human samples.


Biospecimen Retention:   Samples With DNA
Urine, Blood (Plasma, Serum, EDTA) Fresh Tissue, Biopsy, Bone Marrow Aspiration & Cerebral Spinal fluid (rarely).

Estimated Enrollment: 250
Actual Study Start Date: January 1, 2014
Estimated Study Completion Date: September 30, 2020
Estimated Primary Completion Date: September 30, 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Patients Type III
Stratified response to EnzymeTherapy
Other: Stratified response to Enzyme Therapy
Observational study involving reviewing retrospective and prospective data of participants medical history, pathology, imaging and health questionnaires.
Other Name: Stratified response to Substrate Reduction Therapy
Patients Type I
Stratified response to Enzyme Therapy and Substrate Reduction Therapy
Other: Stratified response to Enzyme Therapy
Observational study involving reviewing retrospective and prospective data of participants medical history, pathology, imaging and health questionnaires.
Other Name: Stratified response to Substrate Reduction Therapy

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Eight specialized centres for Gaucher disease in England will recruit approximately 250 patients.
Criteria

Inclusion Criteria:

Each patient must meet all of the following criteria to be enrolled in this study:

  1. Confirmed biochemical diagnosis of Type 1 or Type 3 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 ≥ 5 years of age
  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:

Patients meeting any of the following criteria will be excluded from the study:

  1. Unrelated co-morbid condition limiting life expectancy to less than 6 months
  2. Confirmed Type 2 Gaucher Disease
  3. 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
  4. If determined unsuitable for the study by the investigator
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT03240653

Contacts
Contact: Kathy K Page, BSc (Hons) 01223767899 kp429@medschl.cam.ac.uk

Locations
United Kingdom
Birmingham Childrens Hospital Recruiting
Birmingham, United Kingdom
Contact: Kathy Page, BSc(Hons)    01223 767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Saikat Santra         
New Queen Elizabeth Hospital Recruiting
Birmingham, United Kingdom
Contact: Kathy Page, BSc(Hons)    01223 767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Tarekegn Hiwot         
Cambridge University Hospital Recruiting
Cambridge, United Kingdom
Contact: Kathy K Page, BSc (Hons)    01223767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Patrick Deegan         
Great Ormond Street Hospital Recruiting
London, United Kingdom
Contact: Kathy Page, BSc (Hons)    01223767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Anupam Chakrapani         
National Hospital for Neurology and Neurosurgery Recruiting
London, United Kingdom
Contact: Kathy Page, BSc(Hons)    01223 767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Robin Lachmann         
Royal Free Hospital Recruiting
London, United Kingdom
Contact: Kathy Page, BSc (Hons)    01223767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Derralynn Hughes         
Royal Manchester Childrens Hospital Recruiting
Manchester, United Kingdom
Contact: Kathy Page, BSc (Hons)    01223 767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Simon Jones         
Salford Royal NHS Foundation Trust Recruiting
Salford, United Kingdom
Contact: Kathy Page, BSc(Hons)    01223 767899    kp429@medschl.cam.ac.uk   
Principal Investigator: Reena Sharma         
Sponsors and Collaborators
Cambridge University Hospitals NHS Foundation Trust
Medical Research Council
National Institute for Health Research, United Kingdom
Investigators
Principal Investigator: Timothy M Cox University of Cambridge
  More Information

Responsible Party: Prof Timothy Cox, Professor of Medicine Emeritus, Director of Research, Honorary Consultant, Cambridge University Hospitals NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT03240653     History of Changes
Other Study ID Numbers: MR/K015338/1
Study First Received: July 12, 2017
Last Updated: August 11, 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: 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.
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Time Frame: 3 to 4 at completion of study: however given the value of this cohort, efforts will be made to ensure permanence within the National Health Service and the context of NIHR.
Access Criteria: Individual applications made to Data Monitoring Committee and appropriate guarantees of confidentiality and ethical approval.

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Gaucher Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on September 19, 2017