Fabry diseases or alpha-galactosidase-A-deficiëncy. Acid Sphingomeylinase Deficiency (ASMD) or NIemann PIck type B
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: General good helath as determined by medical history The individual is willing and able to provide signed informed consent prior to study-related procedures The individual is > 18 years of age, In case of a patient with FD or ASMD: a confirmed diagnosis of FD or ASMD and presence of fibroblasts
Exclusion criteria
Exclusion criteria: For patients and healthy subjects: - Unwillingness to adhere to study protocol , For healthy subjects only - Medical history of hypercholesterolemia or other lipid disorder - Use of cholesterol lowering medication
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary study parameter(s) · HDL composition and plasma LCAT activity · LDL receptor activity and abundance · SREBP signalling · Lipid content of lysosomes and endosomes in fibroblasts · Response of the above parameters to incubation with recombinant HDL The above mentioned parameters will be measured in plasma and fibroblasts. Patients will be compared to healthy subjects, and untreated fibroblasts will be compared to fibroblasts incubated with rHDL | — |
Countries
Netherlands
Outcome results
None listed