Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP

Overview

About this study

The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

Index Patients:

* Age ≥ 18 years.
* Confirmed FH diagnosis using Dutch Lipid Clinic Network criteria \*or\* genetic confirmation.
* Identified through REP or Tapestry databases.
* Able and willing to provide informed consent.
* At least one eligible first- or second-degree relative.
* Access to and active use of email (computer literacy requirement).

Relatives:

* First- or second-degree relative of an enrolled index patient.
* Age ≥ 1 year (minors require parental consent + assent).
* Willing to participate and able to complete electronic consent (guardian-assisted if minor).
* Access to and active use of email (guardian).

Exclusion Criteria:

Index Patients:

* No confirmed FH diagnosis.
* Insufficient clinical follow-up (\<5 years).
* No identifiable or contactable relatives.
* Prior participation in structured cascade testing.
* Severe cognitive impairment preventing informed consent.

Relatives:

* Prior participation in structured cascade testing.
* Severe cognitive impairment preventing informed consent.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Elisa Houwink, M.D., Ph.D.

Contact us for the latest status

Contact information:

Renee Weatherly

5072664680

weatherly.renee@mayo.edu

More information

Publications

Publications are currently not available