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

Recruiting

• Conditions: Gaucher Disease; Cerebroside Lipidosis Syndrome; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease

• Registration Number: NCT00358943
• Lead Sponsor: Genzyme, a Sanofi Company

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 1991-04-01
• Study First Submitted: 2006-07-12
• Study First Submitted QC: 2006-07-31
• Study First Posted: 2006-08-01
• Status Verified: 2025-08
• Last Update Submitted: 2025-08-12
• Last Update Posted: 2025-08-13
• Primary Completion: 2034-01-31
• Study Completion: 2034-01-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 12000

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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	42 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 imiglucerase	42 years

Trial Locations

Locations (315)

Phoenix Children's Hospital- Site Number : 840003; 🇺🇸 Phoenix, Arizona, United States

University of Arizona- Site Number : 840015; 🇺🇸 Tucson, Arizona, United States

Arkansas Childrens Hospital- Site Number : 840109; 🇺🇸 Little Rock, Arkansas, United States

University of Arkansas for Medical Sciences- Site Number : 840113; 🇺🇸 Little Rock, Arkansas, United States

Tower Hematology/Oncology Medical Group- Site Number : 840056; 🇺🇸 Beverly Hills, California, United States

University of California at Irvine- Site Number : 840036; 🇺🇸 Irvine, California, United States

Southern California Permanente Medical Group- Site Number : 840108; 🇺🇸 Los Angeles, California, United States

USC Health Sciences Center Dept of Genetics- Site Number : 840082; 🇺🇸 Los Angeles, California, United States

Children's Hospital of Orange County- Site Number : 840074; 🇺🇸 Orange, California, United States

Stanford Unviersity MC Dept of Genetics- Site Number : 840022; 🇺🇸 Palo Alto, California, United States

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