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NCT Number: NCT00358943

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

The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.

The objectives of the Registry are:

* To enhance understanding of the variability, progression, identification, and natural history of Gaucher disease, with the ultimate goal of better guiding and assessing therapeutic intervention. * To assist the Gaucher medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. * To characterize the Gaucher disease population. * To evaluate the long-term effectiveness of imiglucerase and of eliglustat.

Gaucher Pregnancy Sub-registry: The primary objective of this Sub-registry is 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. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.

Recruiting

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Key information

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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

    Time frame: 42 years

  2. 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 imiglucerase

    Time frame: 42 years

Study contacts

Contact information is provided by the study sponsor or research team.

ICGG Gaucher Registry HelpLine

CONTACT

+1(617) 252-7500

Trial Transparency email recommended (Toll free number for US & Canada)

CONTACT

[email protected]

800-633-1610 ext. option 6

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

Gaucher Disease Registry Protocol

Important dates

Study start
1991
Primary completion
2034
Study completion
2034
First posted
Aug 1, 2006
Registry last updated
Apr 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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