Familial hypobetalipoproteinemia
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: FHBL patients: Male; caucasian origin; 18-65 years old; documented FHBL Healthy controls: Male; caucasian origin; 18-65 years old; matched for age, BMI and possible medication use, depending on included FHBL subjects
Exclusion criteria
Exclusion criteria: Use of cholesterol influencing medication; BMI > 35 kg/m2; Diabetes mellitus type 1 and 2; Uncontrolled hypertension; History of arterial disease including acute coronary syndrome (ACS), recent transient ischemic attacks (TIAs) or cerebro-vascular accident (CVA); Alcohol or drug abuse; Hepatic transaminases, yGT or bilirubin > 2 ULN at screening visit; History of gallstones or gallbladder resection; Having received an investigational drug in the last 3 months before the screening visit; Unable or unwilling to comply with the protocol requirements or deemed by the investigator to be unfit for the study; Likely to leave the study before its completion
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Via the quantity of cholesterol isotopes in blood, gall and feces, we will be able to measure how these fluxes add to the total amount of cholesterol that is fecally excreted. The different fluxes are: A) dietary cholesterol that is not absorbed by the intestines B) cholesterol that is excreted in the feces via the blood stream B1) cholesterol excreted via gall B2) cholesterol excreted directly via the intestines C) cholesterol from hepatic de novo synthesis D) intestinal de novo cholesterol synthesis and shedding via enterocytes B2 should be regarded as a derivative of TICE | — |
Secondary
| Measure | Time frame |
|---|---|
| - | — |
Countries
Netherlands
Outcome results
None listed