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Registry tracking outcomes for patients with Gaucher disease

Gaucher Disease Registry Protocol

Observational Sanofi · NCT00358943

This study tracks the health and progress of people with Gaucher disease to help improve treatment and care for them, including those who are pregnant.

Quick facts

Study typeObservational
Enrollment12000 (estimated)
SexAll
SponsorSanofi Industry-sponsored
Locations318 sites (Phoenix, Arizona and 317 other locations)
Trial IDNCT00358943 on ClinicalTrials.gov

What this trial studies

The ICGG Gaucher Registry is an international observational program that monitors clinical outcomes for patients diagnosed with Gaucher disease, regardless of their treatment status. This registry collects data on the variability, progression, and natural history of the disease to improve understanding and guide therapeutic interventions. It also aims to assist the medical community in developing monitoring recommendations and optimizing patient care. Additionally, a sub-registry focuses on tracking outcomes for pregnant patients with Gaucher disease.

Who should consider this trial

Good fit: Ideal candidates include individuals with a confirmed diagnosis of Gaucher disease, including those who are pregnant or have been pregnant.

Not a fit: Patients without a confirmed diagnosis of Gaucher disease will not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could enhance patient care and treatment strategies for individuals with Gaucher disease.

How similar studies have performed: Other observational registries have successfully improved understanding and management of rare diseases, indicating potential for this approach.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

ICGG Gaucher Registry

* 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.

Gaucher Pregnancy Sub-registry:

* 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.

Exclusion Criteria:

\- No exclusion criteria for participation in the ICGG Gaucher Registry and Sub-registry.

Where this trial is running

Phoenix, Arizona and 317 other locations

+268 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Gaucher DiseaseCerebroside Lipidosis SyndromeGlucocerebrosidase Deficiency DiseaseGlucosylceramide Beta-Glucosidase Deficiency Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.