Pediatric Cardiomyopathy Mutation Analysis

February 5, 2024 updated by: Stephanie Ware, Indiana University
The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Lindsey Helvaty, BS, BA
  • Phone Number: (317) 278-3020
  • Email: lhelvaty@iu.edu

Study Contact Backup

  • Name: Stephanie Ware, MD, PhD
  • Phone Number: (317) 278-2807
  • Email: stware@iu.edu

Study Locations

  • United States
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Recruiting
        • IU School of Medicine
        • Contact:
          • Stephanie Ware, MD, PhD
          • Phone Number: 317-278-2807
          • Email: stware@iu.edu

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Families affected by cardiomyopathy

Description

Inclusion Criteria:

  • Subjects with cardiomyopathy
  • Family members of subjects with cardiomyopathy

Exclusion Criteria:

  • Subjects without cardiomyopathy
  • Family members of subjects without cardiomyopathy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Affected
participants with cardiomyopathy
Family Members of affected
Family members of participants with cardiomyopathy (can be affected or unaffected)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Elucidate the molecular genetics of cardiomyopathy
Time Frame: 7 years
7 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Indiana University

Collaborators

American Heart Association

Investigators

  • Principal Investigator: Stephanie Ware, MD, PhD, IU School of Medicine

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2014

Primary Completion (Estimated)

December 31, 2030

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

April 28, 2015

First Submitted That Met QC Criteria

April 28, 2015

First Posted (Estimated)

May 1, 2015

Study Record Updates

Last Update Posted (Estimated)

February 7, 2024

Last Update Submitted That Met QC Criteria

February 5, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1403919054

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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