Status:
COMPLETED
Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
Lead Sponsor:
University of Pennsylvania
Conditions:
Hypercholesterolemia, Familial
Eligibility:
All Genders
10+ years
Phase:
NA
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-...
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 ...
Eligibility Criteria
Inclusion
- For probands, inclusion criteria are as follows:
- 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
- For family members of probands, inclusion criteria are as follows:
- Willingness to participate in the study
- Age 10 or older
- Ability to give informed consent/assent
Key Trial Info
Start Date :
November 1 2014
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
April 1 2017
Estimated Enrollment :
240 Patients enrolled
Trial Details
Trial ID
NCT04526457
Start Date
November 1 2014
End Date
April 1 2017
Last Update
December 10 2020
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