Understanding Gaucher Disease Severity and Treatment Response
Predictive Measures to Stratify Clinical Outcomes in Children and Adults With Gaucher Disease and Responses to Specific Therapies
This study looks at how different factors affect the severity of Gaucher Disease and how well treatments work for people of all ages with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Sex | All |
| Sponsor | Cambridge University Hospitals NHS Foundation Trust Academic / other |
| Locations | 8 sites (Birmingham and 7 other locations) |
| Trial ID | NCT03240653 on ClinicalTrials.gov |
What this trial studies
This research aims to analyze existing and new data from individuals with Gaucher Disease in England to identify clinical factors that predict the severity of the disease and the effectiveness of therapies. It focuses on both Type I and Type III Gaucher Disease, which can lead to various complications including bone pain, anemia, and neurological issues. The study will involve patients of all ages and will assess their responses to enzyme therapy, contributing to a better understanding of the disease's impact on health.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a confirmed diagnosis of Type I, Type II, or Type III Gaucher Disease.
Not a fit: Patients with unrelated co-morbid conditions that limit life expectancy to less than 6 months may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved treatment strategies and better management of Gaucher Disease for patients.
How similar studies have performed: Previous studies have shown promise in understanding Gaucher Disease, but this approach of stratifying responses to therapy is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Each patient must meet all of the following criteria to be enrolled in this study: 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: 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. 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
Where this trial is running
Birmingham and 7 other locations
- Birmingham Childrens Hospital — Birmingham, United Kingdom (Terminated)
- New Queen Elizabeth Hospital — Birmingham, United Kingdom (Recruiting)
- Cambridge University Hospital — Cambridge, United Kingdom (Recruiting)
- Great Ormond Street Hospital — London, United Kingdom (Recruiting)
- National Hospital for Neurology and Neurosurgery — London, United Kingdom (Recruiting)
- Royal Free Hospital — London, United Kingdom (Recruiting)
- Royal Manchester Childrens Hospital — Manchester, United Kingdom (Recruiting)
- Salford Royal NHS Foundation Trust — Salford, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Timothy M Cox, MD — University of Cambridge
- Study coordinator: Elizabeth M MORRIS, RN
- Email: liz.morris@addenbrookes.nhs.uk
- Phone: +441223274634
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.