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

Not Applicable

• Conditions: Antiphospholipid Syndrome
• Interventions: Diagnostic Test: antiphospholipid syndrome

• Registration Number: NCT03384485
• Lead Sponsor: Meir Medical Center

Brief 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

Basic Information
|
Recruitment & Eligibility
|
Study & Design
|
Trial Locations

Study Timeline

• Status Verified: 2017-11
• Study First Submitted: 2017-11-28
• Study First Submitted QC: 2017-12-26
• Last Update Submitted: 2017-12-26
• Study First Posted: 2017-12-27
• Last Update Posted: 2017-12-27
• Study Start: 2018-02-01
• Primary Completion: 2018-08-01
• Study Completion: 2018-10-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• Clinical diagnosis of Antiphospholipid syndrome.
• able to read and sign inform concent

Read More

Exclusion Criteria

• Fabry disease.

Read More

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
antiphospholipid syndrome	antiphospholipid syndrome	blood test in patients that diagnosed with antiphospholipid syndrome to diagnose Fabry's disease

Primary Outcome Measures

Name	Time	Method
Lys-3-3 plasma	an average of 1 year	blood test to find the enzyme for Fabry's disease

Trial Locations

Locations (1)

Meir Medical Center; 🇮🇱 Kfar Saba, Israel