The 2018 CDKL5 Progam of Excellence grant program is now open.
Letters of interest have been reviewed, and we are accepting full applications by invite-only. Please read the RFA before submitting your full application.
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards may vary.
CDD is a monogenic, orphan condition characterized by treatment-resistant epilepsy and severe cognitive and motor disability. 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 CDKL5 Deficiency 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 cognitive 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 neurologic development. Therefore basic science projects that address these gaps are welcome as long as they are tethered to the development of a potential therapy. While the RFA is broad in scope, priority will be given to grants that cover the following areas:
- Novel therapeutic approaches for CDKL5 Deficiency Disorder (CDD), including but not limited to techniques in genome editing, RNA-based mechanisms, biologics, and small molecule repurposing.
- Approaches to validate phenotypes in CDKL5 function or disease pathophysiology through rescue of phenotypic deficits with pharmacological or genetic / gene therapy techniques. Phenotypic reversal in rodent models will focus on the use of adult (2 months of age or older) animals. In particular, approaches are encouraged which allow the identification of individual CDKL5 protein isoforms (arising from alternative splicing, alternative promoter usage, or post-translational modifications) which can rescue these phenotypes.
- Systems biology and computational modeling approaches to provide a deeper understanding of CDKL5 function, downstream effectors, signaling, protein:protein interactors, or modifiers, including regulators of CDKL5 gene expression (transcriptional, post-transcriptional/RNA processing, translational, post-translational).
- Novel imaging and functional approaches to phenotyping CDD in pre-clinical models or the clinical setting. A non-exclusive list of topics that would be responsive to this RFA is listed below
- Functional/structural MRI; diffusion tensor imaging (DTI)
- Magnetic resonance spectroscopy (MRS)
- Stimulus-induced event-related potentials: impact of CDKL5 genetic / gene therapy or pharmacological interventions on deficits in stimulus-induced event potentials (visual, auditory, or other) in CDD disease models
- Discovery and validation of CDKL5 biomarkers and their translation to the clinical setting.