Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia (IFIGhTFH)

University of Pennsylvania

Status: Completed

Conditions: Hypercholesterolemia, Familial

Treatments: Other: Genetic Testing; Other: Standard of Care

Study type: Interventional

Funder types: Other

Identifiers

NCT04526457

820969

Details and patient eligibility

About

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.

Full 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

Enrollment: 240 patients

Sex: All

Ages: 10+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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240 participants in 2 patient groups

Standard of Care

Other group

Description:

Participants with suspected FH (LDL-C greater than 220 mg/dL) or a previous clinical diagnosis of FH and randomized to standard of care with lipid testing only.

Treatment:

Other: Standard of Care

Genetic Testing

Other group

Description:

Participants with suspected FH (LDL-C greater than 220 mg/dL) or a previous clinical diagnosis of FH randomized to genetic testing

Treatment:

Other: Genetic Testing