RecruitingNot Applicable

Gaucherite - A Study to Stratify Gaucher Disease

United Kingdom250 participantsStarted 2014-01-01

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

Exclusion criteria

. 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Neurological outcome

Timeframe: 2029

Fragility Fracture

Timeframe: 2029

Disease Severity

Timeframe: 2029

Bone Marrow Involvement

Timeframe: 2029

Bone avascular necrosis

Timeframe: 2029

Cognitive Function

Timeframe: 2019

Cognitive Function

Timeframe: 2029

Neurological Physical Assessment

Timeframe: 2029

Trial details

NCT IDNCT03240653

SponsorCambridge University Hospitals NHS Foundation Trust

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-09-30

Contact for this trial

Elizabeth M MORRIS, RN

+441223274634 liz.morris@addenbrookes.nhs.uk

View on ClinicalTrials.gov More Gaucher Disease, Type I trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

Exclusion criteria

. 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