NCT03384485

Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients With Antiphospholipid Syndrome.

Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: Meir Medical Center · Academic / Other
• Sex: All
• Age: 18 Years – 100 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed 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

Conditions

• Antiphospholipid Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	antiphospholipid syndrome	blood test for enzyme test,plasma and Lys-3-3 plasma

Timeline

• Start date: 2018-02-01
• Primary completion: 2018-08-01
• Completion: 2018-10-01
• First posted: 2017-12-27
• Last updated: 2017-12-27

Locations

1 site across 1 country: Israel