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

December 9, 2020 updated by: University of Pennsylvania
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Study Type

Interventional

Enrollment (Actual)

240

Phase

  • Not Applicable

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

10 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Standard of Care
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.
Other: Standard of Care
Randomized to standard of care with lipid testing only.
Other: Genetic Testing
Participants with suspected FH (LDL-C greater than 220 mg/dL) or a previous clinical diagnosis of FH randomized to genetic testing
Other: Genetic Testing
Randomized to genetic testing.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of probands with relatives enrolled
Time Frame: 52 weeks after genetic/lipid testing results are returned to probands
The primary outcome of this study was the number of probands with family members enrolled in the study within 52 weeks of results being returned to probands. Investigators compared the proportion of probands with a relative enrolled in the genetic testing group with the proportion of probands with a relative enrolled in the usual care group (lipid testing only). Relative enrolment was defined as the return of a test kit within the study time frame.
52 weeks after genetic/lipid testing results are returned to probands

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The number of relatives enrolled in the study 52 weeks after results were returned to probands
Time Frame: 52 weeks after results are returned to probands
The number of relatives enrolled in the study within 52 weeks of results being returned to probands. Investigators compared the number of relatives enrolled in the genetic testing group with the number of relatives enrolled in the usual care group (lipid testing only). Relative enrolment was defined as the return of a test kit within the study time frame.
52 weeks after results are returned to probands
The number of family members diagnosed with FH 52 weeks after results were returned to probands
Time Frame: 52 weeks after results are returned to probands
The number of family members diagnosed with FH within 52 weeks of results being returned to probands. Investigators compared the number of enrolled relatives diagnosed with FH in the genetic testing group with the number of enrolled relatives diagnosed with FH in the usual care group (lipid testing only). This diagnosis had to be made through the study. The number of enrolled relatives diagnosed with FH in each group was expressed as the new case per index case ratio (relatives diagnosed with FH/total number of index case). Relative enrolment was defined as the return of a test kit within the study time frame. The diagnosis of FH was based on meeting either genetic or the Make Early Diagnosis To Prevent Early Deaths (MEDPED) clinical criteria
52 weeks after results are returned to probands

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Proband perceptions about their high cholesterol including its etiology, management and heritability at 20 weeks after enrollment compared to baseline
Time Frame: 20 weeks after enrollment
Proband perceptions about their high cholesterol including its etiology, management and heritability were examined at baseline and 20 weeks after enrollment, using a questionnaire administered at these time points. Investigators examined proband agreement/disagreement with statements about the etiology of their high cholesterol, its management and heritability in these questionnaires. Using this approach, investigators were able to determine the proportion of probands that agreed/disagreed with these statements, and could compare how these proportions differed between the groups of interest at baseline/follow-up and how these changed from baseline to follow-up.
20 weeks after enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pennsylvania

Investigators

  • Principal Investigator: Daniel J Rader, MD, University of Pennsylvania

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2014

Primary Completion (Actual)

December 1, 2016

Study Completion (Actual)

April 1, 2017

Study Registration Dates

First Submitted

August 19, 2020

First Submitted That Met QC Criteria

August 24, 2020

First Posted (Actual)

August 25, 2020

Study Record Updates

Last Update Posted (Actual)

December 10, 2020

Last Update Submitted That Met QC Criteria

December 9, 2020

Last Verified

December 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 820969

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

IRB approval to share IPD was not obtained for this protocol at the time of the initial protocol submission. If this should be required as part of the peer review process, or after publication of the study results and application will be submitted for a protocol amendment to fulfill this request

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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