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

Genzyme

Status: Enrolling

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

Study type: Observational

Funder types: Industry

Identifiers

NCT00358943

U1111-1295-5844 (Registry Identifier)

ICGG Gaucher Registry (Other Identifier)

DIREGC07009

Details and patient eligibility

About

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.

Enrollment: 12,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

12,000 participants in 2 patient groups

Patients in ICGG Gaucher Registry

Description:

No experimental intervention is given. A patient with Gaucher Disease will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.

Pregnant women with confirmed diagnosis of Gaucher disease

Description:

No experimental intervention is given. Pregnant women with confirmed diagnosis of Gaucher disease who are participating in the ICGG Gaucher Registry and consented to participate in the Gaucher Pregnancy Sub-registry, regardless of whether she is receiving disease-specific therapy and irrespective of the commercial product with which she may be treated.