Research

CHD2-related Neurodevelopmental Disorders

In ultra-rare disease, it is often difficult to justify developing a new medication for just a handful of children and even more so if you don’t understand the disease.

In order for drug developers and researchers to identify patients eligible for either new drugs or repurposed drugs specific to CHD2, it will be imperative to create a database containing the medical records and other health information of CHD2 patients all over the world.

Therefore, we ask that you participate in the following efforts to collect data about people with CHD2-related disorders:

Participate in Clinical Trials and Studies

There are exciting opportunities for families to participate today in clinical trials and studies that may improve some of the symptoms of CHD2-related disorders. Click here for more information.

Have you or your loved one been diagnosed with CHD2?

Ongoing Studies

RARE-X Study

Participating in a data collection program is one of the most important things that families with a child with CHD2-related neurodevelopmental disorders can do.

CHD2 In Adults

This study aims to understand seizures, communication and daily living of adults with CHD2 mutations.

Citizen Health

Natural History Studies (NHS) are critical to the drug development process. Citizen Health has developed a new method to make this process easier.

Simons Searchlight

By joining our community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of CHD2.

Videos

You Did Nothing Wrong

Where are the Adults with CHD2?

The Power of Family Foundations