A Study Of Circulating Biomarkers For PRKAG2- And PLN-Related Cardiomyopathies

Overview

About this study

The purpose of this study is to identify circulating biomarkers specific to two rare genetic cardiomyopathies associated with disease-causative variants in PRKAG2 and PLN.

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:

  • Patients ≥ 12 years of age with genetically confirmed (i.e. American College of Medical Genetics and Genomics adjudicated “likely pathogenic” or “pathogenic” variant) PRKAG2 syndrome or PLN-related cardiomyopathy.

 

Exclusion Criteria: 

  • Patients who are currently pregnant.

  • Patients without the ability to understand and provide informed consent.

  • Patients enrolled in interventional clinical trials.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 06/01/2026. Questions regarding updates should be directed to the study team contact.

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

John Giudicessi, M.D., Ph.D.

Contact us for the latest status

Contact information:

Carla Haglund-Turnquist

5072848900

haglundturnquist.carla@mayo.edu

More information

Publications

Publications are currently not available