International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
Study on Clinical Outcomes in Gaucher Disease
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 a specific enzyme, β-glucocerebrosidase, is deficient or mutated. The study aims to understand the progression and natural history of this disease to improve patient care and therapeutic interventions. It involves tracking clinical outcomes for patients with Gaucher disease, regardless of their treatment status, through routine assessments determined by their doctors.
Participants will undergo standard clinical assessments, and their data will be collected to evaluate the long-term effectiveness of existing treatments. Additionally, there is a focus on pregnant women with Gaucher disease to monitor pregnancy outcomes and infant growth. No experimental treatments are provided, ensuring that all care aligns with standard medical practices.
- Who can participate: All patients with a confirmed diagnosis of Gaucher disease, defined by a documented enzyme deficiency or gene mutation, are eligible. Pregnant women enrolled in the Registry can join the Pregnancy Sub-registry with proper documentation and consent.
- Study details: Participants will receive routine clinical assessments as part of their standard care. Data on their health and treatment outcomes will be collected and analyzed. For those in the Pregnancy Sub-registry, additional data on pregnancy and infant growth will be gathered.
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