Pilot Grant Program for CDKL5 Deficiency Disorder (CDD)



The Orphan Disease Center (ODC) at the University of Pennsylvania and the Loulou Foundation are pleased to announce the 2018 Pilot Grant Program for CDKL5 Deficiency Disorder (CDD). CDD is a monogenic, orphan condition characterized by treatment-resistant epilepsy and severe cognitive and motor disability. The Loulou Foundation and the ODC will provide a one-year grant for $150,000.00 (total cost) to support research related to CDD – number of awards may vary.


We encourage you to review these application materials. Likewise, please share this funding opportunity with those holding a faculty-level appointment in your department, or other faculty who may be interested in this area of research. All applicants must first submit a letter of Interest (LOI) to be reviewed for consideration of a full application submission. LOIs are due no later than Thursday, March 8, 2018 at 5pm (EST). LOIs can be uploaded via this form, also found on our website. Full application guidelines including the Loulou Foundation Patent Policy are attached.


We are seeking grant applications that progress the discovery or development of treatments or cures for CDD. 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:


1) 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.

2) 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.

3) 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).

4) 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:

o Functional/structural MRI; diffusion tensor imaging (DTI)

o Magnetic resonance spectroscopy (MRS)

o 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

5) Discovery and validation of CDKL5 biomarkers and their translation to the clinical setting.



Thank you for your help, and please reach out if you have any questions regarding this grant program.



Samantha Charleston

Assistant Director

Orphan Disease Center

University of Pennsylvania

Phone: 215-573-6822

scharle [at] upenn.edu ()