Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Meir Medical Center
- Enrollment
- 100
- Locations
- 2
- Primary Endpoint
- Lys-3-3 plasma
Study Overview
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
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 100 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Clinical diagnosis of Antiphospholipid syndrome.
- •able to read and sign inform concent
Exclusion Criteria
- •Fabry disease.
Arms & Interventions
antiphospholipid syndrome
blood test in patients that diagnosed with antiphospholipid syndrome to diagnose Fabry's disease
Intervention: antiphospholipid syndrome (Diagnostic Test)
Outcomes
Primary Outcomes
Lys-3-3 plasma
Time Frame: an average of 1 year
blood test to find the enzyme for Fabry's disease
Secondary Outcomes
No secondary outcomes reported
Investigators
yair levy
head of department internal medicine E
Meir Medical Center