International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
Study on Gaucher Disease, a Genetic Disorder, and Pregnancy Outcomes
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
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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 Gaucher disease, a genetic disorder where fatty substances accumulate in certain organs. The purpose is to understand the disease's progression and characteristics. Participants will be observed over time to gather data on their health outcomes, without any experimental treatments involved.
Participants will undergo regular clinical assessments as part of their routine care. For pregnant women with Gaucher disease, additional data on pregnancy and infant growth will be collected, if they consent. This helps in understanding the impact of Gaucher disease during pregnancy.
- Who can participate: Individuals of any age with a confirmed diagnosis of Gaucher disease, defined by a deficiency or mutation in the β-glucocerebrosidase gene. Pregnant women must be enrolled in the main registry and provide consent.
- Study Details: Participants will have clinical assessments as part of standard care. For pregnant participants, data on pregnancy and infant growth will be collected if consent is given.
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