Understanding Gaucher Disease Severity and Treatment Response

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.