Pediatric Cardiomyopathy Mutation Analysis

Investigating Genetic Factors in Heart Muscle Problems in Children

S
Stephanie Ware, MD

Primary Investigator

Recruiting
100 years or below
All
Phase N/A
2 Locations

Brief description of study

The purpose of the study is to identify genes related to pediatric cardiomyopathy, a disease that causes poor function of the heart muscle. The heart muscle is responsible for moving blood throughout the body, and when heart muscle function is decreased, the heart cannot pump blood through the body well. We hope to understand how changes in genes cause poor heart function. It is important to understand the causes of cardiomyopathy so that we can prevent it or design better treatment.
 
Potential subjects will be identified through the electronic medical record (EMR) by study staff. Study staff may also be notified by clinical staff of newly admitted/eligible patients via phone, email, in-person conversations, or through the EMR system. Eligible participants may also be identified via referral from other clinicians, or self-referral. 

Detailed description of study

This study involves collection of blood samples from adults and children.  Clinical information will be collected from enrolled subjects and entered into a database will include data related to cardiac function, phenotype, management, extra-cardiac disease, and pedigree information. All medical data and information will be obtained only after the family provides written or verbal permission for its acquisition and use. This data will be used for genotype/phenotype correlations if a causative or presumptive gene mutation is found. In rare cases in which a blood sample cannot be obtained, cheek swabs (cytobrush) or saliva samples may be obtained. Pre-existing cardiac, muscle, or skin fibroblast tissues will be collected if available.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Cardiomyopathy, Riley
  • Age: 100 years or below
  • Gender: All

Inclusion criteria:

•    Subjects with Cardiomyopathy

•    Subjects at risk for Cardiomyopathy

•    Family members of subjects with or at risk for Cardiomyopathy

This study investigates the genetic factors related to pediatric cardiomyopathy, a condition that affects the heart muscle's ability to function properly. Cardiomyopathy makes it difficult for the heart to pump blood effectively throughout the body. The purpose of this study is to understand how changes in genes might lead to poor heart function.

Participants in this study will provide blood samples, and clinical information will be collected to understand their heart function and other health details. If blood samples cannot be obtained, cheek swabs or saliva samples may be used. The information gathered will help researchers make connections between gene changes and heart health.

  • Who can participate: This study is for individuals with cardiomyopathy, those at risk for it, and their family members. Participants can be of any age, including children.
  • Study details: Participants in this study will provide blood samples, and clinical information will be collected to understand their heart function and other health details. If blood samples cannot be obtained, cheek swabs or saliva samples may be used. The information gathered will help researchers make connections between gene changes and heart health.
Updated on 11 Dec 2025. Study ID: PEDS-IIR-WARE-CMM, 1403919054

Find a site

We have submitted the contact information you provided to the research team at {{SITE_NAME}}. A copy of the message has been sent to your email for your records.
Would you like to be notified about other trials? Sign up for Patient Notification Services.
Sign up

Send a message

Enter your contact details to connect with study team

Investigator Avatar

Primary Contact

First name*
Last name*
Email*
Phone number*
Other language

Interested in the study?

Select a study center that’s convenient for you, and get in touch with the study team.

Connect with the Study Team