Assessment of cardio vascular risk by measurement of carotid intima-media thickness (cIMT) in adult type I Gaucher disease patients.

• Conditions: Gaucher disease type I; glucocerebrosidase deficiency; 10027424

• Registration Number: NL-OMON29706
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 140

Inclusion Criteria

-Patients, older than 18 years, with proven GD I, as evidenced by decreased plasma glucocerebrosidase activity or genotyping.
-Carriers, older than 18 years, with proven heterozygosity for the GD I genotype.
-Controls, older than 18 years, with proven absence of the four most prevalent Gaucher-mutations, and, if related to a Gaucher patient, absence of the Gaucher mutations present in their family.
-Patients, carriers and controls have to provide written informed consent to participate in the study.

Exclusion Criteria

none

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>cIMT</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>total cholesterol, LDL, HDL.</p><br>