CDKL5 Disorder | Research & Clinical Studies

What research is being done on CDKL5?

While there is no known cure for CDKL5 disorder, the CDKL5 Clinic and its affiliated researchers are working hard to develop new treatment options. To set the stage for clinical treatment trials in the future, we are seeking to better understand the disorder’s natural progression and the complications that children can experience. Our laboratory research on the effects of the CDKL5 mutation will help guide these trials as well.  

Clinical studies of CDKL5 disorder

Two observational studies at Boston Children’s Hospital’s CDKL5 clinic are actively gathering information about the genetic variations that may contribute to the disorder and the clinical features that are associated with those variants. These studies are optional and are not required for care at the clinic. If you have questions about participating in our CDKL5 research studies, please contact the study coordinators at 617-355-5230 or by email at  

Laboratory studies of CDKL5 disorder

Boston Children’s Translational Neuroscience Center and F.M. Kirby Neurobiology Center have upcoming studies to better understand the biology of CDKL5 disease and its effects on visual processing. Read more about laboratory research on CDKL5.

Additional translational studies may be available soon. Please ask our team (617-355-5230 or via email).

Selected research publications on CDKL5 disorder

Fehr S; et al. There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord 2015; 7:2. DOI: 10.1186/1866-1955-7-2

Fehr S; et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet 2013 Mar; 21: 266–73.  

Olson HE, Poduri A. CDKL5 mutations in early onset epilepsy: Case report and review of the literature. J Pediatr Epilep 2012: 1:151-9.

See more research publications on CDKL5.