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Eric Scheeff, PhD, Chief Scientific Officer at iDefine, discusses the treatment development of RNA amplifiers in patients with Kleefstra syndrome. Kleefstra syndrome is a rare disorder characterized by developmental delay and intellectual disability, severely limited or absent speech, distinctive facial features, and hypotonia. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm or unresponsiveness. The condition is a haploinsufficiency caused by mutations in the EHMT1 gene or the deletion of a specific region of chromosome 9 that includes EHMT1. Current treatment options are supportive, such as speech therapy and seizure medications, with no approved treatments targeting the underlying cause of disease. Dr. Scheef explains that these options are inadequately addressing the severity of disease that most patients experience. iDefine is currently collaborating with Dr. Jeff Coller’s lab at Johns Hopkins University, where RNA amplifiers are being investigated to increase the effectiveness of the one EHMT1 gene present in patients with Kleefstra syndrome. The goal with this technology is to expand into other haploinsufficiencies using a similar mechanism. To other patient organizations looking to develop their own treatment, Dr. Scheef recommends starting with the underlying biology of disease and building a scientific advisory board. Once that foundation is in place, set the goal of a clinical trial and work backwards to determine what steps need to be taken. To learn more about potentially partnering with IDefine email [email protected] For more information on rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/ Kleefstra Syndrome Overview 00:11 Current Treatment Options 1:29 Diagnostic Journey 2:00 Targeted Therapy Development 4:20 Application in Other Indications 5:41 Advice on Drug Development for Advocacy Groups 7:52 Take Home Message 9:13

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