Gaucher disease type I glucocerebrosidase deficiency
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
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
Exclusion criteria: none
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| cIMT | — |
Secondary
| Measure | Time frame |
|---|---|
| total cholesterol, LDL, HDL. | — |
Countries
Netherlands