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Observational Kleefstra study

Research Study Title: Investigating the Natural History of Kleefstra Syndrome

At Boston Children’s Hospital, we are conducting a research study for individuals ages 13 years and older diagnosed with Kleefstra syndrome. In order to improve clinical care and prepare to carry out future clinical trials for individuals diagnosed with Kleefstra syndrome, it is important to collect accurate information on the effects and changes that happen (longitudinal natural history) among individuals with Kleefstra syndrome. As such, the purpose of this research study is to gather detailed historical and physical examination information on a large population of individuals with Kleefstra syndrome. We also hope this will help us determine clinical care guidelines for treating the mental health challenges such as psychosis and behavioral regression that can be associated with Kleefstra syndrome.

  • Who can participate in this study? To participate in this study, you need to have a diagnosis of Kleefstra syndrome with a chromosomal deletion including the EHMT1 gene or a pathogenic (disease-causing) variant in the EHMT1 gene. Females and males 13 years and older are eligible. 
  • How long will the study last? This will be a two-year observational natural history study. Participants will be asked to visit Boston Children’s Hospital at least two times during the study, but there may be the possibility of arranging remote study visits.
  • What will participants do during this study?
    • participant/caregiver will need to sign our informed consent form, which will go over the study in detail
    • participants will have behavioral and cognitive testing
    • parents/caregivers will answer questions about the participant’s behavior and medical history
    • if participant shows clear signs of psychosis or a deterioration in behavioral functioning, we may ask the participant to come in additional times

If you are interested, you can have a conversation with a member of the study team over the phone and they can explain the study to you in more detail.

If you are interested in participating, have any questions, or would like more information, please feel free to contact our study team at 617-919-7370 or