CDKL5 Deficiency Disorder (CDD) is a devastating neurodevelopmental disorder caused by mutations in the CDKL5 gene. The Loulou Foundation, a private non-profit foundation dedicated to the development of novel therapeutics for CDD, and Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital have launched a joint research collaboration focused on therapeutic research for this disorder.
The work will focus on the behavioral pharmacology of novel small molecule and genetic methods to reverse the behavioral and molecular deficits in animal models of CDD. The research is expected to help advance both the basic science as well as the therapeutic research towards more effective symptomatic and disease-modifying treatments for CDD, a disorder characterized by neurodevelopmental delay and intractable epilepsy. With an incidence of approximately one in 42,000 live births, CDD is one of the most common monogenic pediatric epilepsy disorders.
Few treatment options are effective to manage the epilepsy in CDD patients, and there are no therapeutics for the neurodevelopmental delay. Potential treatments in development range from small molecule therapeutics to gene therapy and genome engineering approaches. The collaboration led by the leadership of the Loulou Foundation and Dr. Rodney Samaco, assistant professor of molecular and human genetics at Baylor College Medicine and the NRI, will provide a pipeline of animal models and behavioral assay platforms to rapidly and efficiently evaluate different models or therapeutic approaches for their validity and reproducibility.
“The Loulou Foundation is proud to be working with Dr. Samaco and BCM-NRI on this important collaborative effort,” said Dr. Daniel J. Lavery, Chief Scientific Officer at the Loulou Foundation. “The development of effective therapeutics for CDD patients will be greatly aided by the robust platform for behavioral pharmacology at the NRI, allowing us to benefit from the Institute’s world class expertise and industry-scale infrastructure.”
Dr. Huda Y. Zoghbi, professor of molecular and human genetics, a Howard Hughes Medical Institute investigator at Baylor and Director of the NRI states, “I am thrilled that the LouLou Foundation chose to support research aimed at testing therapeutics in preclinical models of CDKL5 at the NRI. This generous support will enable rigorous testing that we hope will help those with CDD.”
“As a team, the scale of this collaboration has the potential to alter the course of the therapeutic landscape,” Samaco said. “In the rare genetic disease space, there is overwhelming support to bring the ‘voice’ of all stakeholders to the decision-making platform. This initiative will provide significant and immediate impact to the CDD field, and possibly other rare disorders with overlapping features.”
Zoghbi is also professor of pediatrics, neuroscience, a member of the Dan L Duncan Comprehensive Cancer Center and the Ralph D. Feigin Professor at Baylor.