Get Fabry Registry Annual Report 2011 - Fabry

Frequency. Fabry disease affects an estimated 1 in 1,000 to 9,000 people. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.

There are ongoing gene therapy clinical trials for Fabry disease, while other research is still in preclinical studies, which are the earliest stages of research.

Fabry Disease Burning pain in the arms and legs, which worsens in hot weather or following exercise. The buildup of excess material in the clear layers of the cornea (resulting in clouding but no change in vision) Impaired circulation that may lead to stroke or heart attack due to fatty storage in blood vessel walls.

Tinnitus, vertigo, fatigue and angiokeratoma were present in over 40% of patients. Symptoms were noted in early childhood and occurred with similar frequency in boys and girls, although the onset of symptoms was 2-5 y later in girls than in boys.

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.

Fabry disease testing for men and women For males, a blood test measures the level of alpha-GAL enzyme. If the alpha-GAL enzyme assay ("assay" is another word for "test") shows low enzyme activity, then the person has Fabry disease. For females, a DNA test is required.

Published data from the Fabry registry indicates that male Fabry disease patients live an average of about 58 years, compared to about 75 years for men in the general population in the U.S. For women with Fabry disease, the average life expectancy is around 75 years compared to 80 years for women in the U.S. general ...

FOS is a disease registry sponsored by Takeda that collects information on patients with Fabry disease across the world. Information on symptoms, disease progression and treatment has been collected since the first patients joined FOS in 2001, and there are now over 4000 patients enrolled.