VLDL1, VLDL2, and LDL apolipoprotein B-100 kinetics in patients with familial hypercholesterolemia of unknown origin (FH4)

Completed

• Conditions: Familial hypercholesterolemia; 10013317

• Registration Number: NL-OMON45448
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Trial ended prematurely

Detailed Description

Not available

Study Timeline

• Study Completion: 2020-04-20
• Last Update Posted: 11 June 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 2

Inclusion Criteria

- Diagnosis of familial hypercholesterolemia of unknown origin (FH4) based on Dutch Lipid Clinic Network criteria (Nordestgaard et al. 2013) and negative DNA-testing (mutations in LDLR, ApoB, PCSK9).
- Untreated LDL-cholesterol levels of > 95th percentile for affected members
- 18-65 years of age;Controls:
- Unaffected family member with untreated LDL-cholesterol between 20-60th percentile
- 18-65 years of age
Or:
- Persons with mutations in LDLR, APOB, or PCSK9 gene or other genes involved in lipid metabolism.
- 18-65 years of age

Exclusion Criteria

· Heavy alcohol use
· Dysthyroidism
· Pregnancy, breastfeeding
· Renal insufficiency (creatinine >150 µmol/L)
· Diabetes mellitus

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Tracer/tracee ratio, pool size, fractional catabolic rate, and production rate<br /><br>in FH4 subjects compared with (family) controls and/or dyslipidemic patients<br /><br>with mutations in established lipid genes.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>n.v.t.</p><br>