Patient-Specific Induced Pluripotent Stem Cell Models for Heritable Channelopathies and Cardiomyopathies

Overview

About this study

The purpose of this study is to derive and characterize patient-specific disease models for sudden death-predisposing heritable channelopathies and cardiomyopathies using iPS-cell technology.  It is hoped that the molecular, cellular, and electrophysiological phenotypes of these in-vitro disease models will further elucidate the pathophysiologic mechanisms underlying these sudden death-associated conditions.

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 age 0-100 with a clinically diagnosed heritable channelopathy or cardiomyopathy (the proband). 
  • Relatives of the proband  ≥18 years old who are mutation negative and/or disease negative, to serve as controls. 
  • Note of clarification: Only children with a clinically diagnosed heritable channelopathy or cardiomyopathy are eligible to participate in this study.  If the relative of a proband is a child without the heritable channelopathy or cardiomyopathy, that child is not eligible to participate.

Exclusion Criteria:

  • Patients with allergy to subcutaneous lidocaine, bupivicaine, or epinephrine.  
  • Relatives of a proband that are <18 years of age who are mutation negative and/or disease-negative. 
    • In other words, children are only eligible for this study if they themselves have a heritable channelopathy or cardiomyopathy; they are not eligible to serve as controls

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

Michael Ackerman, M.D., Ph.D.

Open for enrollment

Contact information:

Carla Haglund-Turnquist

(507) 284-8900

HaglundTurnquist.Carla@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

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