ClinicalTrials.gov record NCT00358943
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
Gaucher Disease Registry Protocol
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
An ongoing, observational registry that collects routine clinical information on people with a confirmed diagnosis of Gaucher disease. No experimental treatments are given; care is provided by each patient's physician. A Pregnancy Sub-registry separately tracks pregnancy outcomes and, with consent, infant growth up to 36 months. The registry is prospective and records outcomes over time.
What it is studying. The registry aims to describe the natural history and variability of Gaucher disease, help develop monitoring recommendations, characterize the patient population, evaluate long-term outcomes related to imiglucerase and eliglustat, and track pregnancy and infant outcomes in women with Gaucher disease.
What the researchers hope to learn. To improve understanding of Gaucher disease progression and variability; to provide data for developing monitoring recommendations and reporting patient outcomes; to characterize the Gaucher patient population; to evaluate long-term outcomes related to imiglucerase and eliglustat; and to document pregnancy complications and infant growth in women with Gaucher disease.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is an observational registry: no experimental treatments are given and care remains the responsibility of your treating physician. Participants provide informed consent and allow the registry to collect medical information and routine clinical assessment results over time. Women who join the Pregnancy Sub-registry provide medical and obstetric history and pregnancy/birth outcomes; if they consent, infant growth and related data may be collected through month 36 postpartum. The record does not list any specific invasive study procedures beyond routine clinical care.
How the study is structured. An international, prospective observational registry (cohort) that collects routine clinical data from people with confirmed Gaucher disease. No experimental intervention is assigned. A Pregnancy Sub-registry collects medical, obstetric, birth, and (with consent) infant growth data through month 36 postpartum. The record lists a target duration of 12 months for participation and outcome tracking timeframes extending in the registry record.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in 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, United Arab Emirates, United Kingdom, United States, Vietnam. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Gaucher disease
Important dates
- Study start
- Apr 1, 1991
- Primary completion
- Jan 31, 2034 (estimated)
- Study completion
- Jan 31, 2034 (estimated)
- Target enrollment
- 12000 participants (estimated)
- Last updated on registry
- Apr 14, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Genzyme, a Sanofi Company
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Trial Transparency email recommended (Toll free number for US & Canada) 📞 800-633-1610 ext. option 6 ✉ contact-us@sanofi.com
- ICGG Gaucher Registry HelpLine 📞 +1(617) 252-7500
Participating sites (318)
- Phoenix Children's Hospital- Site Number : 840003Recruiting
Phoenix, Arizona, 85016 · United States
- University of Arizona- Site Number : 840015Recruiting
Tucson, Arizona, 85724 · United States
- Arkansas Children's Hospital- Site Number : 840109Recruiting
Little Rock, Arkansas, 72202 · United States
- University of Arkansas for Medical Sciences- Site Number : 840113Recruiting
Little Rock, Arkansas, 72205 · United States
- Tower Hematology Oncology Medical Group- Site Number : 840056Recruiting
Beverly Hills, California, 90211 · United States
- University of California at Irvine- Site Number : 840036Recruiting
Irvine, California, 92617 · United States
- Southern California Permanente Medical Group- Site Number : 840108Recruiting
Los Angeles, California, 90027 · United States
- USC Health Sciences Center Dept of Genetics- Site Number : 840082Completed
Los Angeles, California, 90033 · United States
- Children's Hospital of Orange County- Site Number : 840074Recruiting
Orange, California, 92868 · United States
- UC Davis MIND Institute- Site Number : 840010Recruiting
Sacramento, California, 95817 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- Registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- primary objective
- The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
- standard of care
- Treatment generally considered appropriate for a condition in a particular clinical setting. It can vary by patient, place and over time. In many studies the new treatment is added to, or compared with, standard of care.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- exclusion criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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