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The Fabry Disease Registry


When an individual carrying the Fabry gene, whether they have symptoms or not, participates in submitting clinical assessment information into the Fabry Registry, it helps everyone with Fabry disaese.


The Fabry Registry is an important tool for physicians and researchers to better understand Fabry disease, which in turn will result in better treatment and care options for individuals with Fabry disease. Therefore, it is very important for individuals carrying the Fabry gene, male and female, whether symptomatic or not to ensure their clinical assessments are conducted and entered into the Fabry Registry by a participating physician.

Details of the Fabry Registry and the clinical assessments that should be conducted and entered into the Registry are provided in the links below. Past Registry reports are available in the Fabry Registry link on the right menu bar. The links below will open in separate webpages outside of the NFDF website.


Minimum Schedule of Recommended Assessments for Monitoring Patients with Fabry Disease
  We recommend that individuals with Fabry disease print this document and provide it to all of their physicains who treat the various symptoms of their disease. 

Annual Fabry Registry Reports 

The primary objectives of the Fabry 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; and
  • To evaluate the long-term safety and effectiveness of Enzyme Replacement Therapy 

Fabry Disease Registry Frequently Asked Questions (FAQs) 

Only healthcare providers have direct access to the Fabry Registry. However, while patients and families do not have direct access to the Fabry Registry, information from the Registry annual reports will be posted throughout this site. Also, as mentioned, the complete Registry reports are provided. It isvery important for individuals with Fabry disease to participate in registry data collection. Individuals with Fabry disease can help tremendously by doing four important things:

First, individuals can ensure their primary Fabry care provider and other physicians involved in their care are aware of the Minimum Recommended Schedule of Assessments (link above) necessary to adequately monitor the health of an individual with Fabry disease.

Second, individuals should urge their physicians to participate in the Fabry Registry (link above) directly or by providing patient clinical information through a physician who is participating in the Registry.

Third, individuals should ensure their primary Fabry care provider receives all clinical assessment information an individual receives. Because Fabry disease is a multi-system disease, Fabry patients usually visit several physicians working in different medical specialties. All of the necessary clinical information doesn't always make it to the physician responsible for entering data into the Registry.

Fourth, individuals may request a Patient Case Report (PCR) from their physicians that shows all of the information about them that has been entered into the Fabry Registry. This report is very useful to both: ensure the information being collected by physicians is actually making it into the Registry and if not, determine the problem; and to allow individuals to provide their historical clinical information to other physicians they may visit for care and treatment.

We encourage all physicians managing or participating in the care of individuals with Fabry disease to directly or indirectly participate in the collection and submission of clinical data into the Registry. Those physicians not participating in the Registry directly may participate indirectly through a participating physician who has volunteered to function as an input hub/collection center.

 


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