Fabry Disease Registry Protocol
概览
- 阶段
- 不适用
- 干预措施
- Patients with Fabry disease
- 疾病 / 适应症
- Fabry Disease
- 发起方
- Genzyme, a Sanofi Company
- 入组人数
- 9000
- 试验地点
- 576
- 主要终点
- Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®
- 状态
- 招募中
- 最后更新
- 4天前
概览
简要总结
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.
研究者
入排标准
入选标准
- •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.
排除标准
- •Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.
研究组 & 干预措施
Patients with Fabry disease
No experimental intervention is given. A patient with Fabry Disease will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.
Pregnant women with confirmed diagnosis of Fabry
No experimental intervention is given. Pregnant women with confirmed diagnosis of Fabry that are participating in the Fabry Registry and consented to participate in the Fabry Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with agalsidase beta) and irrespective of the commercial product with which she may be treated.
结局指标
主要结局
Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®
时间窗: 33 years
The primary purpose of this Registry is to describe the development and progression of Fabry disease in a representative global population. As Fabry is not a well-described disease this longitudinal program has a wide variety of "primary" outcomes including antibody testing as well as complication outcomes (eg, QoL, cognitive testing) which are measured over time. Additionally, as it is subject to what is collected by clinical sites at the time of visit it is unknown the amount of data that will be available for analyses.
Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth
时间窗: 33 years
The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Fabry disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with agalsidase beta. This Sub-registry augments the routine monitoring and data collection recommended by the Fabry Registry. The Sub-registry aims to collect patient assessments from the ante- and perinatal periods and postpartum follow-up. Neonatal assessments and periodic pediatric assessments will also be collected.
次要结局
- Fabry Register: Monitor factors associated with the efficacy of Fabry disease treatments(33 years)