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

Study on Clinical Outcomes and Pregnancy in Gaucher Disease

Recruiting
All
Phase N/A
12000 participants needed
69 Locations

Study Overview

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.

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Gaucher Disease, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Gender: All

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.

This study investigates the clinical outcomes of patients with Gaucher disease through an observational registry. The purpose of the registry is to gather data on how the disease progresses and affects patients over time, without altering their treatment plans. This helps in understanding the natural history of the disease and aids in developing better therapeutic interventions.

Participants in the study will undergo routine clinical assessments as part of their standard care, as determined by their treating physicians. The study includes a pregnancy sub-registry to track outcomes for women with Gaucher disease during and after pregnancy, including any complications and the growth of infants up to 36 months postpartum. This observational study collects data without providing any experimental treatment, ensuring that participants receive the usual care from their healthcare providers.

  • Who can participate: Individuals eligible for the study include those with a confirmed diagnosis of Gaucher disease, characterized by a documented deficiency or mutation in the β-glucocerebrosidase gene. Pregnant women with Gaucher disease enrolled in the main registry can participate in the pregnancy sub-registry.
  • Study details: Participants will undergo regular clinical assessments as part of their routine care, with no experimental treatments administered. Data will be collected on patient outcomes and, for the pregnancy sub-registry, on pregnancy and infant growth.
Updated on 29 Oct 2025. Study ID: NCT00358943

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