Machine Learning Guided Precision Genetic Testing for Identification of Monogenic Cardiovascular Disorders

Overview

About this study

The purpose of this study is to validate a precision genetic testing approach guided by machine learning (ML)-based models.

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 with Hypertrophic Cardiomyopathy, Patients with Amyloid, Healthy Control Patients (all 18+).
  • HCM Cases: ICD9 (425.1 or 425.11 or 425.18) OR ICD10 (I42.1 or I42.2) or HCM noted in medical history (from NLP text mining)
  • No HCM Controls: Absence of any relevant ICD9 or ICD10 codes (or history of HCM) in any encounter, AND absence of HCM noted in medical history (from NLP text mining)
  • Cardiac Amyloid Cases Inclusion: ICD9 (277.30 or 277.39) OR ICD10 (E85.4, E85.9 or E85.82) or cardiac amyloid noted in medical history (from NLP text mining)
  • No Cardiac Amyloid Controls: Absence of relevant ICD9 or ICD10 code in any encounter, AND absence of any amyloid noted in medical history (from NLP text mining)

Exclusion Criteria: 

  • HCM Cases: Age <18 yo
  • No HCM Controls: Age <18 yo, family history of HCM, <2 health system encounters, clinical diagnosis of infiltrative cardiomyopathy
  • Cardiac Amyloid Cases: Age < 18 yo, clinical diagnosis of other infiltrative cardiomyopathy
  • No Cardiac Amyloid Controls Exclusion: Age < 18 yo, clinical diagnosis of other infiltrative cardiomyopathy, <2 health system encounters 

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

Eligibility last updated 2/13/2025. 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

Naveen Pereira, M.D.

Contact us for the latest status

Contact information:

Halley Davison M.H.A.

(507) 422-6246

davison.halley@mayo.edu

More information

Publications

Publications are currently not available
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CLS-20580642

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