Back to search results

International Gaucher Disease Registry

This is an ongoing international study called the ICGG Gaucher Registry. It aims to better understand Gaucher disease (a genetic condition where certain fats build up in cells and organs) and how it progresses. The study is collecting information from patients with a confirmed diagnosis of Gaucher disease, which means they have a documented deficiency in a specific enzyme (β-glucocerebrosidase) or a mutation in the related gene. This registry will help doctors develop better ways to monitor patients and improve their care. There are no experimental treatments involved; you would receive your usual care from your doctor. The study also includes a Pregnancy Sub-registry to track outcomes for pregnant women with Gaucher disease, whether or not they are receiving treatment like imiglucerase.

Study design
This is an observational study, meaning researchers will collect information about your health over time. It plans to include up to 12,000 participants.
What's involved
Patients in the Registry will undergo clinical assessments and receive care as determined by their treating physician. The record does not specify additional visits or procedures beyond routine care.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for up to 42 years to track patient outcomes and pregnancy outcomes.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00358943

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry

Recruiting
Not specifiedAll AgesObservational
Genzyme, a Sanofi Company
~12,000 participants
Updated 2026-04-14 on ClinicalTrials.gov

At a glance

Recruiting sites
254 of 318 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
ICGG Gaucher Registry: To provide the Gaucher medical community with recommendations for monitoring patients and to provide reports on patient outcomes to help optimize patient care
Measured over 42 years
+1 more outcome measured

Conditions

Gaucher Disease
Cerebroside Lipidosis Syndrome
Glucocerebrosidase Deficiency Disease
Glucosylceramide Beta-Glucosidase Deficiency Disease

Explore related trials

Gaucher DiseaseGBA1 Gene

NCT00358943

Where you'd take part

This study runs at 318 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011

    Chicago, Illinoisno site contact published

    Recruiting

  • Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013

    Chicago, Illinoisno site contact published

    Recruiting

  • Arkansas Children's Hospital- Site Number : 840109

    Little Rock, Arkansasno site contact published

    Recruiting

  • Atlantic Health System- Site Number : 840099

    Morristown, New Jerseyno site contact published

    Recruiting

  • Boston Children's Hospital - PIN- Site Number : 840092

    Boston, Massachusettsno site contact published

    Recruiting

  • Carolinas Medical Center Hospital- Site Number : 840065

    Charlotte, North Carolinano site contact published

    Recruiting

  • Children's Hospital of Michigan- Site Number : 840066

    Detroit, Michiganno site contact published

    Recruiting

  • Children's Hospital of Orange County- Site Number : 840074

    Orange, Californiano site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Study Director · STUDY_DIRECTOR · Genzyme, a Sanofi Company

Who to contact

Trial Transparency email recommended (Toll free number for US & Canada)
[email protected]
800-633-1610 · ext. option 6
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Want this trial checked against your situation?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion in the Registry. Confirmed diagnosis is defined as a documented β-glucocerebrosidase deficiency and/or mutation in the β-glucocerebrosidase gene.
For all patients, appropriate patient authorization will be obtained.
be enrolled in the ICGG Gaucher Registry.
be pregnant, or have been pregnant with appropriate medical documentation available.
provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.

What this trial measures

  • ICGG Gaucher Registry: To provide the Gaucher medical community with recommendations for monitoring patients and to provide reports on patient outcomes to help optimize patient care42 years
  • Gaucher Pregnancy Sub-registry: To track pregnancy outcomes, including complications and infant growth, in all women with Gaucher disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with imiglucerase42 years