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.

Ongoing Studies

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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.

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CHD2 In Adults

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

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Ciitizen/Invitae

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

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