Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients With Antiphospholipid Syndrome.
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About
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Because this disease is a rare disease most of the time it is misdiagnosed, so in this study we will check out the Prevalence of lysosomal hydrolase alpha-glagtosidase deficiency ( Fabry disease) in patients with Antiphospholipid Syndrome.
Full description
the investigators would like to assess the prevalence of Fabry in men and women aged 18-100 who were diagnosed with antiphospholipid syndrome in our departmental clinic in 2000-2017 It is very important to diagnose Fabri that then the treatment of patients can vary dramatically.
The study will include 100 adult patients (18-100) men and women. Testing for the Fabri test in men is an enzyme test and will be performed subject to their consent to sign informed consent. In the women, an enzyme test will be carried out, and the plasma Lys-3-3 plasma storage, as recommended in the recently published diagnostic algorithms, is examined. If diagnosed, a patient will be referred to a genetic institute for further genetic counseling
Enrollment
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Inclusion criteria
- Clinical diagnosis of Antiphospholipid syndrome.
- able to read and sign inform concent
Exclusion criteria
• Fabry disease.
Trial design
Primary purpose
Allocation
Interventional model
Masking
100 participants in 1 patient group
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Central trial contact
Yael Eizikovits; Hitam Hagog
Data sourced from clinicaltrials.gov
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