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

Observational Study on Gaucher Disease Outcomes, a Rare Genetic Disorder

Recruiting
All
Phase N/A
12000 participants needed
79 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.

Updated on 17 Apr 2024. Study ID: NCT00358943

This study investigates the clinical outcomes of patients with Gaucher disease, a rare genetic disorder. Gaucher disease is caused by a deficiency in an enzyme called β-glucocerebrosidase, which leads to the buildup of certain fats in the body. This study does not involve any experimental treatments. Instead, it collects information about patients' health and how they are being treated by their doctors.

Participants will undergo clinical assessments, which are regular check-ups to monitor their health. The study also includes a special part called the Pregnancy Sub-registry, which focuses on women with Gaucher disease who are pregnant. It collects information about their pregnancies and their babies' growth up to 36 months after birth.

  • Who can participate: Individuals with a confirmed diagnosis of Gaucher disease, shown by a deficiency in the β-glucocerebrosidase enzyme or a gene mutation, can participate. Pregnant women with Gaucher disease who are part of the main registry can join the Pregnancy Sub-registry.
  • Study details: Participants will have clinical assessments as part of their routine care. For pregnant participants, additional data on pregnancy and infant growth will be collected if they consent. No experimental treatments are given in this study.

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