CompletedNot Applicable

Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia

240 participantsStarted 2014-11-01

Plain-language summary

To test the hypothesis that in patients with a clinical diagnosis of familial hypercholesterolemia (FH), genetic testing and identification of a causative mutation might enhance the success of family-based cascade screening.

Who can participate

Age range10 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. LDL cholesterol \> 220 mg/dL or a previous clinical diagnosis of FH
✓. Aged 18 years or older
✓. Ability to provide informed consent
✓. Willingness/ability to contact a minimum of 2 biological relatives about the study

Exclusion criteria

✕. Willingness to participate in the study
✕. Age 10 or older
✕. Ability to give informed consent/assent

What they're measuring

Number of probands with relatives enrolled

Timeframe: 52 weeks after genetic/lipid testing results are returned to probands

Trial details

NCT IDNCT04526457

SponsorUniversity of Pennsylvania

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2016-12-01

View on ClinicalTrials.gov More Hypercholesterolemia, Familial trials