Patient Engagement
Partnership for Kleefstra Syndrome
IDefine
IDefine is a United States-based organization who aims to discover treatment s and cures for genetic disorders causing intellectual disability. The IDefine platform was created to support the Kleefstra Syndrome community with the current objectives of establishing a Kleefstra Syndrome Center of Excellence, funding scientific research and development, and building a network for community outreach and support.
CLINICAL TRIAL
Investigating the Natural History of Kleefstra Syndrome
PI: Siddharth Srivastava MD
Natural History — An international collaborative group led by Dr. Tjitske Kleefstra is studying individuals’ ages 13 years and older diagnosed with Kleefstra Syndrome (EHMT1 deletion or pathogenic variant). The goals of this research are to study the natural history of Kleefstra Syndrome and determine best practices for treating the mental health challenges that can be associated with Kleefstra Syndrome.
Patient Advocacy Partner: IDefine