fabry registries

Fabry Registry and Fabry Outcome Survey

There are currently two Fabry data bases:
1. Fabry Registry (Genzyme)
2. Fabry Outcome Survey or FOS (Shire).

Fabry Registry (Genzyme)

The Fabry Registry was created to gather information to improve the understanding and treatment of Fabry disease.

All people who have Fabry disease are eligible to participate, regardless of whether they are on disease-specific treatment. Your physician is the one who will enrol you in the Fabry Registry. He or she will explain the program and will ask you to sign an authorisation to participate in the Registry. Your participation is completely voluntary.

When you volunteer to participate in the Fabry Registry, your medical information is pooled with other participants’ and is used to assist physicians in studying trends and addressing specific questions about treating Fabry disease. This information may contribute to better care for you and other people living with Fabry disease.

In addition to helping physicians better understand Fabry disease, the Registry can also benefit you. For instance, it can help you and your physician monitor your disease, whether or not you are currently on treatment.You can ask your doctor to print out your personal results from the Fabry Registry and discuss these results with them.

Because Fabry disease is rare, it can be difficult to collect information on how the disease and its treatment affect different people. The Fabry Registry is a database for gathering this critical information.

FOS - Fabry Outcomes Survey – Shire HGT (Human Genetic Therapies)

Registries or outcome surveys record the care received by patients during regular routine visits to their doctor. Surveys can run for many years or even decades and the information that is collected helps to examine treatments in different groups of patients (age, sex, treated or untreated) in real world settings. Clinical trials provide a snapshot of information about a disease or treatment and are restrictive in that they often have a short length and only include patients that have specific features. Because Fabry disease is rare, each Fabry doctor may only see a very small number of people with Fabry Disease. Therefore it is important to pool information from patients from across the world so that we can gain a clearer picture of how well treatment works in everyday use. This information can help guide improvements in the management of Fabry Disease and subsequently improve patient health.

The Fabry Outcome Survey (FOS) is a real-world observational survey of people with a confirmed diagnosis of Fabry disease who are either receiving enzyme replacement therapy (ERT) with agalsidase alfa (Replagal®) or are not receiving (ERT). The aim of FOS is to provide new and ongoing information to help understand the long term effectiveness and safety of treatment on the progression of Fabry Disease. In addition FOS looks at information about how Fabry Disease itself progresses (its natural history). Information from FOS has and will continue to be published in scientific and medical journals to ensure findings are communicated to the wider medical community.

FOS has been running since 2001 and is driven by Fabry physicians who make all the decisions about the scientific questions, type of information collected and the analyses that will be performed. Shire HGT supports FOS by providing the necessary funds and resources for administration and statistical analysis. Information for FOS is collected by Fabry doctors from many patients at many hospitals across the world. The Fabry doctors receive financial support from Shire to assist with the cost of managing and entering FOS information into the database.

The information from people with Fabry Disease is essential to the ongoing success of FOS and its findings. If you are interested in being part of FOS, ask your Fabry doctor for more information.  Your participation requires your consent and is entirely voluntary. Your identity will only be known by your Fabry Doctor and your name will never be entered into the secure Survey database. Regardless of whether or not you participate in FOS, your ongoing Fabry treatment will not be affected in any way.

Your Privacy is Protected

Patient privacy is a top concern for the Fabry Registry. Information about you can only be submitted following your written authorisation. You will not be identified by name, as patient names are not collected by the Registry. Instead, all enrolled patients are randomly assigned an identification number. Only your physician will know what number is assigned to you. Any information that would identify you as a patient of your physician is also kept confidential. All information in the Registry is collected in a way that prevents the identification of specific patients.