Beginning to unravel the cause of familial hypercholesterolemia of unknown origin (FH4)

Beginning to unravel the cause of familial hypercholesterolemia of unknown origin (FH4) - BEAVER

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON44591

Enrollment

200

Registered

2017-10-05

Start date

2018-01-16

Completion date

Unknown

Last updated

2025-03-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial hypercholesterolemia

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Diagnosis of familial hypercholesterolemia based on Dutch Lipid Clinic Network criteria (Nordestgaard et al. 2013) in combination with a negative DNA-testing (mutations in LDLR, ApoB, PCSK9). - Untreated LDL-cholesterol levels of > 95th percentile for age and gender, or between 20-60th percentile for family controls - >18 years of age

Exclusion criteria

Exclusion criteria: - Heavy alcohol use - Dysthyroidism - Renal insufficiency (creatinine >150 µmol/L) - Diabetes mellitus

Design outcomes

Primary

Measure	Time frame
The main study parameters are novel mutations/SNP*s associated with hypercholesterolemia, methylation of target genes, DNA expression, (semi-)quantification of proteins (proteomics), (semi-)quantification of metabolites (e.g. lipids/fatty acids) in FH4 patients compared with matched controls	—

Secondary

Measure	Time frame
nvt	—

Countries

Netherlands

Outcome results