100-150 pts with dg. inflammatory bowel disease

Fabry Disease

dry blood test

General Teaching Hospital

Screening of Fabry Disease in Patients With GI Symptoms

The Czech National Fabry Disease Screening Study in Patients Diagnosed With Non-infectious Inflammatory Bowel Disease, Functional Dyspepsia or Irritable Bowel Syndrome

To assess prevalence of Fabry disease in GI symptomatic participants, alpha-galactosidase enzymatic activity will be determined in samples of dry blood spot of patients with some medical history of idiopathic inflammatory bowel disease, functional dyspepsia or irritable bowel syndrom in a study population of 500-800 patients.

after first 6 months first data available - number of screened/positive/negative pts

Gabriela Dostálová

Principal Investigator

General University Hospital, Prague

Charles University, Czech Republic

Klinické centrum ISCARE

Amicus Therapeutics

Subjects will include individuals with Fabry disease who are switching from agalsidase alfa to agalsidase beta

Controls will include individuals with Fabry disease who have only received agalsidase beta as treatment in their lifetime.

O&O Alpan

Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta

Blood samples will be collected prior to infusion (screening & month 12). At baseline, antibodies against agalsidase alfa and beta measured, and at 12 months, antibodies against agalsidase beta will be measured by ELISA technique and will be isotyped immunoglobulins (IgG, IgA, IgM, or IgE). Positive samples will subsequently tested for enzyme neutralizing activity using an in vitro assay. Antibody measurements will be done by Shire Human Genetics Therapies, INC.

Plasma samples collected after at least 8 hours of fasting prior to the blood draw. Plasma and urine samples (Gb3 only) analyzed using mass spectrometry. Gb3 measurements will be performed by Shire HGT.

alpha galactosidase/inflammation

Screening of Fabry Disease in Patients With GI Symptoms

Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta

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