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

Antiphospholipid Syndrome Clinical Trial

Official title:

Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT03384485
• Other study ID #: 0255-17MMC
• Status: Not yet recruiting
• Phase: N/A
• First received: November 28, 2017
• Last updated: December 26, 2017
• Start date: February 1, 2018
• Est. completion date: October 1, 2018

Study information

• Verified date: November 2017
• Source: Meir Medical Center
• Contact: Hitam Hagog
• Phone: 972-09-7472626
• Email: Hitam.hagog[@]clalit.org.il
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: October 1, 2018
• Est. primary completion date: August 1, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 100 Years

Eligibility

Inclusion Criteria:

• Clinical diagnosis of Antiphospholipid syndrome.

• able to read and sign inform concent

Exclusion Criteria:

• Fabry disease.

Related Conditions & MeSH terms

• Antiphospholipid Syndrome
• Syndrome

Intervention

Diagnostic Test:
• antiphospholipid syndrome
blood test for enzyme test,plasma and Lys-3-3 plasma

Locations

Country	Name	City	State
Israel	Meir Medical Center	Kfar Saba

Sponsors (1)

Lead Sponsor	Collaborator
Meir Medical Center

Country where clinical trial is conducted

Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Lys-3-3 plasma	blood test to find the enzyme for Fabry's disease	an average of 1 year