Cerebroside Lipidosis Syndrome, Gaucher Disease, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
Conditions
Keywords
Gaucher Disease, Glucocerebrosidase Deficiency Disease
Brief summary
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.
Interventions
None listed
Sponsors
Genzyme, a Sanofi Company
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| ICGG Gaucher Registry: To provide the Gaucher medical community with recommendations for monitoring patients and to provide reports on patient outcomes to help optimize patient care | 42 years |
| Gaucher Pregnancy Sub-registry: 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, such as ERT with imiglucerase | 42 years |
Countries
Argentina, Australia, Belgium, Brazil, Bulgaria, Canada, China, Colombia, Croatia, Czechia, Denmark, Dominican Republic, Egypt, France, Germany, Greece, Hong Kong, Hungary, India, Indonesia, Israel, Italy, Japan, Jordan, Kuwait, Lebanon, Lithuania, Malaysia, Netherlands, Pakistan, Peru, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Serbia, Singapore, Slovakia, South Africa, South Korea, Spain, Sweden, Switzerland, Taiwan, Thailand, Turkey (Türkiye), United Arab Emirates, United Kingdom, United States, Vietnam
Contacts
CONTACTTrial Transparency email recommended (Toll free number for US & Canada)
CONTACTICGG Gaucher Registry HelpLine
STUDY_DIRECTORStudy Director
Genzyme, a Sanofi Company
Outcome results
None listed