Kleefstra Syndrome Center of Excellence
We are partnering our resources and care efforts with the Translational Neuroscience Center at Boston Children's Hospital to provide specialized care for individuals with Kleefstra Syndrome.
Our goal is to establish a Kleefstra Syndrome Center of Excellence (COE). This "Kleefstra Clinic" will allow our patients to receive innovative and expert care, either in person or via virtual appointments. More details coming soon.
Boston Children's Hospital
We are working closely with Dr. Siddarth Srivastava, pediatric neurologist at BCH specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression— using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders.
We plan to discover and bring to market life-changing treatments for Kleefstra Syndrome patients. In so doing, we will demonstrate that Intellectual Disability (ID) disorders are in fact treatable conditions, in the same way that disorders of mental illness have become treatable with drugs over time.
Kleefstra Syndrome is an excellent model system for drug development in the ID space:
A single gene causes KS (EHMT1), and it has been extensively studied
There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
EHMT1 is involved in epigenetic regulation, an area of research that has seen substantial investment and drug development in the last decade
Epigenetic regulation appears to be a key factor in multiple ID syndromes, so development of a treatment for KS may inform options for other syndromes
There is a very active community of KS families, opening the door to clinical study recruitment when a potential therapy has been identified
In consultation with our Scientific Advisory Board, we will pursue the most promising avenues for drug development, and "go where the science takes us". A range of approaches are being reviewed, including small-molecule drug repurposing, small molecule drug development, oligonucleotide-based therapies, or gene therapies.