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

Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients

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.

Study Overview

• Status: Unknown
• Conditions: Antiphospholipid Syndrome
• Intervention / Treatment: Diagnostic test: 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

• Study Type: Interventional
• Enrollment (Anticipated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Hitam Hagog; Phone Number: 972-09-7472626; Email: Hitam.hagog@clalit.org.il
• Study Contact Backup: Name: Yael Eizikovits; Phone Number: 972-09-7471936; Email: yael.eizikovits@clalit.org.il

Study Locations

• Israel
  • Kfar Saba, Israel, 44281
    • Meir Medical Center
    • Contact: Hitam Hagog; Phone Number: 972-09-7472626; Email: Hitam.hagog@clalit.org.il
    • Contact: Yael Eizikovits; Phone Number: 972-09-7471936; Email: yael.eizikovits@clalit.org.il

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 100 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Fabry disease.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: antiphospholipid syndrome; blood test in patients that diagnosed with antiphospholipid syndrome to diagnose Fabry's disease	Diagnostic test: antiphospholipid syndrome; blood test for enzyme test,plasma and Lys-3-3 plasma

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Lys-3-3 plasma	blood test to find the enzyme for Fabry's disease	an average of 1 year

Collaborators and Investigators

• Sponsor: Meir Medical Center
• Investigators: Principal Investigator: Yair Levy, head of department internal medicin E

Study record dates

Study Major Dates

• Study Start (Anticipated): February 1, 2018
• Primary Completion (Anticipated): August 1, 2018
• Study Completion (Anticipated): October 1, 2018

Study Registration Dates

• First Submitted: November 28, 2017
• First Submitted That Met QC Criteria: December 26, 2017
• First Posted (Actual): December 27, 2017

Study Record Updates

• Last Update Posted (Actual): December 27, 2017
• Last Update Submitted That Met QC Criteria: December 26, 2017
• Last Verified: November 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Immune System Diseases; Autoimmune Diseases; Disease; Syndrome; Antiphospholipid Syndrome
• Other Study ID Numbers: 0255-17MMC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No