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Fabry Disease Registry & Pregnancy Sub-registry

Fabry Disease Registry Protocol

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry 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 primary objectives of the Registry are: * To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; * To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; * To characterize and describe the Fabry population as a whole; * To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. 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.

Who May Be Eligible (Plain English)

Inclusion Criteria - Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the willing to sign a consent form and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL. - Fabry Pregnancy Sub-registry: - Eligible women must: - be enrolled in the Fabry Registry. - be pregnant, or have been pregnant with appropriate medical documentation available. - provide a signed willing to sign a consent form and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed. Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria * Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL. * Fabry Pregnancy Sub-registry: * Eligible women must: * be enrolled in the Fabry 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 Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.

Locations (20)

University of Alabama Birmingham- Nephrology- Site Number : 840018
Birmingham, Alabama, United States
University of Alabama Birmingham- Nephrology- Site Number : 840073
Birmingham, Alabama, United States
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, United States
University of Arizona- Site Number : 840015
Tucson, Arizona, United States
Arkansas Children's Hospital- Site Number : 840109
Little Rock, Arkansas, United States
University of Arkansas for Medical Sciences- Site Number : 840113
Little Rock, Arkansas, United States
University of California at Irvine- Site Number : 840036
Irvine, California, United States
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, United States
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, United States
UCLA School Of Medicine- Site Number : 840088
Los Angeles, California, United States
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
Oakland, California, United States
Children's Hospital of Orange County- Site Number : 840074
Orange, California, United States
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, United States
Kaiser Permanente Sacramento Medical Center- Site Number : 840042
Sacramento, California, United States
University of California at San Diego- Site Number : 840007
San Diego, California, United States
University of California San Francisco - Parnassus Campus- Site Number : 840051
San Francisco, California, United States
Stanford University Medical Center- Site Number : 840022
Stanford, California, United States
Yale University School of Medicine- Site Number : 840047
New Haven, Connecticut, United States
Children's National Medical Center - Washington- Site Number : 840067
Washington D.C., District of Columbia, United States
University Hematology Oncology- Site Number : 840075
Coral Springs, Florida, United States