Clinical trial NCT04526457: Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
Official title: Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Hypercholesterolemia, Familial
Keywords: Familial Hypercholesterolemia
Genetics
Cascade screening
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
First posted: 2020-08-25
Enrollment: 240
Sex: ALL
Minimum age (years): 10
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Probands were randomized 2:1 to genetic testing for FH plus lipid testing or lipid testing alone
Primary purpose: OTHER

Brief 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.

Detailed 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

Eligibility criteria: Inclusion Criteria:

* For probands, inclusion criteria are as follows:

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

Exclusion Criteria:

* For family members of probands, inclusion criteria are as follows:

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

Primary outcomes:
measure: Number of probands with relatives enrolled
timeFrame: 52 weeks after genetic/lipid testing results are returned to probands
Secondary outcomes:
measure: The number of relatives enrolled in the study 52 weeks after results were returned to probands
timeFrame: 52 weeks after results are returned to probands
measure: The number of family members diagnosed with FH 52 weeks after results were returned to probands
timeFrame: 52 weeks after results are returned to probands
Other outcomes:
measure: Proband perceptions about their high cholesterol including its etiology, management and heritability at 20 weeks after enrollment compared to baseline
timeFrame: 20 weeks after enrollment
Locations:
Study officials:
affiliation: University of Pennsylvania
name: Daniel J Rader, MD
role: PRINCIPAL_INVESTIGATOR
References:
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