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ORPHAN DISEASE CENTER and LOULOU FOUNDATION CDKL5 Program of Excellence PILOT GRANT PROGRAM
CDKL5 Deficiency Disorder (CDD) is a monogenic, neurodevelopmental disorder characterized by treatment-resistant epilepsy and severe neurodevelopmental delay. The disease is driven by the loss of a kinase called CDKL5 which is responsible for normal neuronal development, synapse formation and signal transmission. The mechanism(s) by which loss of CDKL5 expression leads to CNS disease is unclear. The gene encoding this protein is located on the X chromosome with heterozygous females primarily affected. The disease does not exhibit neurodegeneration and animal models strongly suggest the potential for reversibility. There are no approved therapies and standard of care is not effective at managing seizures or improving neurodevelopmental or motor deficits.
We are seeking grant applications that progress the discovery or development of treatments and/or a cure for CDKL5 Deficiency. We recognize, however, that many gaps exist in the basic understanding of CDKL5 and its role in neurological development. Therefore, basic science projects that address these gaps are welcome, provided that they are tethered to the development of a potential therapy.
Deadline for LOI: March 6, 2020