Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia — IFIGhTFH  

Hypercholesterolemia, Familial Clinical Trial

Official title: Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia

Status Completed

Clinical Trial 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.

Clinical Trial Description

To examine the impact of genetic testing on the efficiency of cascade screening for FH, patients with suspected FH or a clinical diagnosis of FH have been randomized to genetic testing or standard of care with lipid testing alone. After systematic encouragement of family enrollment, as a primary endpoint, the compared the number of probands with relatives enrolled in each group one year after results were returned to probands. The secondary endpoints examined include the number of relatives enrolled within 52 weeks of the genetic counseling call and the number of relatives diagnosed with FH through the study. Exploratory subgroup analyses were conducted stratifying the cohort by randomization/genetic test result. Further exploratory analyses compared probands' perceptions about high cholesterol diagnosis at baseline and at 20 weeks from enrollment ;

Related Conditions & MeSH terms

• Hypercholesterolemia
• Hypercholesterolemia, Familial
• Hyperlipoproteinemia Type II

• NCT number: NCT04526457
• Study type: Interventional
• Source: University of Pennsylvania
• Status: Completed
• Phase: N/A
• Start date: November 1, 2014
• Completion date: April 1, 2017