Active not recruitingOBSERVATIONAL

Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

The CHD GENES study is designed to understand why some babies are born with heart defects, which are the most common birth malformation and a big reason for infant mortality. By looking at genes, researchers hope to find common causes of these heart problems and learn how they might affect a person's health over time. Doctors and scientists will gather information and genetic samples from children and adults with congenital heart defects. This will help them build a better picture of how genetics play a part in these conditions, with the aim of improving future care and understanding.

At a glance

Status

Active not recruiting

Sponsor

Children's Hospital Medical Center, Cincinnati

Enrolment target

32,000

Start

15 Nov 2010

Estimated completion

01 Dec 2032

Congenital Heart Defects

What is this study about?

Heart problems that babies are born with are known as congenital heart defects (CHD). These are the most common type of major birth defect, affecting about 8 out of every 1,000 babies born. They can cause serious health issues and are a significant reason why some infants sadly don’t survive.

At the moment, we don’t fully understand why these heart problems happen. The CHD GENES study is a large, ongoing project hoping to change this. Researchers involved will collect health details and genetic information from many individuals with congenital heart defects. This involves working with several medical centres that specialise in children's heart conditions.

The main goal is to create a comprehensive collection of genetic samples and health information. By studying this information together, scientists hope to discover common genetic reasons behind congenital heart defects and understand how these genes might influence a person's health in the long run. This knowledge could lead to better ways to diagnose, treat, and even prevent these conditions in the future.

Key takeaways

This study aims to understand the genetic causes of heart defects in babies.
It involves collecting health information and genetic samples (like blood) from participants.
People of almost any age, with congenital heart defects, can join.
It's an observational study, meaning no new treatments are given as part of it.
Your participation helps improve future understanding and care for these conditions.
All personal information is kept private.

Who may be eligible?

Anyone from babies to people up to 99 years old can potentially join this study. Both males and females are welcome to take part.

To be considered for the study, you or your child must agree to participate by signing a consent form. This form explains everything about the study in detail.

However, there are a couple of specific heart conditions that mean someone cannot join this particular study. These include a very small hole in the heart (called a patent foramen ovale) that doesn't usually cause problems, or a specific type of open blood vessel near the heart (called a patent ductus arteriosus) if it's solely linked to being born prematurely.

Quick self-check

I am considering joining or enrolling my child.
I or my child has a congenital heart defect.
I am able to sign a consent form for participation.
My heart condition is not just a small, usually harmless hole (patent foramen ovale).
My heart condition is not just a specific open blood vessel (patent ductus arteriosus) purely due to being born early.

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, the doctors and healthcare team will collect some information about your health or your child's health by asking questions and reviewing your medical records. They will also collect biological samples, most likely blood, for genetic tests. This study is mainly about observation; you won't be given any new medications or treatments as part of the study itself. The exact number of visits and the full duration of your participation will be discussed in detail when you consider joining, as this is an ongoing observational study.

Potential risks and benefits

The main benefit of taking part in this study is helping researchers gain a much better understanding of congenital heart defects. This knowledge could lead to improved diagnosis, treatments, and possibly even prevention for future generations. The risks are generally low, mainly involving the minor discomfort of providing a biological sample, such as a blood draw. All personal information and genetic data will be kept private and handled with care. Remember, deciding whether to participate is entirely up to you, and you have the right to withdraw from the study at any time without it affecting your medical care.

Locations (15)

Children's Hospital Los Angeles
Los Angeles, United States
Stanford University
Palo Alto, United States
University of California, San Francisco
San Francisco, United States
Yale University
New Haven, United States
Children's Healthcare of Atlanta
Atlanta, United States
Brigham & Women's Hospital
Boston, United States
Children's Hospital Boston
Boston, United States
University of Michigan Health
Ann Arbor, United States
Cohen Children's Medical Center New York
New Hyde Park, United States
Mount Sinai School of Medicine
New York, United States
Columbia University Medical Center
New York, United States
University of Rochester
Rochester, United States

+3 more sites — see the official record for the full list.

Common questions

What is a congenital heart defect?

It's a problem with the heart's structure that a baby is born with, meaning the heart didn't form correctly during pregnancy.

Will taking part change my medical treatment?

No, this study is about observation and understanding; it won't change the care or treatment you or your child receives for a heart condition.

What kind of samples will be collected?

Researchers will collect biological samples, most likely blood, to get genetic information (DNA).

Is my personal information kept private?

Yes, all your personal and genetic information will be kept strictly confidential and protected.

How long will I be involved in the study?

This is an ongoing observational study, and the exact length of your participation will be explained when you consider joining.