About this study
Congenital chromatin conditions (CCCs or chromatin disorders) are rare genetic conditions present at birth. People with these conditions have gene changes that prevent their bodies from using DNA properly. These changes can affect how the brain, nervous system, and body develop and function, leading to neurological disorders. There is no cure yet for CCCs.
People with CCCs may have learning delays, slow development, growth differences, and other health concerns. These conditions can affect many parts of the body. The symptoms may get worse over time. Doctors are still learning about CCCs.
This research study will look at how CCCs affect the body over time. We want to know what the symptoms are and how the conditions may change over time. We will also look at ways to monitor and track CCC symptoms. This will help scientists better understand how CCCs affect learning, movement, behavior, and daily life. We will also look for things that could make symptoms better or worse.
We will collect health and development information from medical histories and interviews. Participants will also get genetic testing, physical exams, and physical therapy tests. They will answer questions about their health and daily activities, and take tests to assess their learning, thinking, and behavior. They may also be asked to do walking activities so that researchers can study their movement.
The study will last for 5 years. Some people may be followed long-term.
Information from this study may help us find better ways to measure how CCCs change over time and help the development of future new treatments.
Eligibility overview
- All ages
- Has a congenital chromatin condition (such as Kabuki syndrome, Rubinstein-Taybi syndrome, Menke-Hennekam syndrome, or Smith Magenis syndrome)