Orphan Disease Center -- CDKL5 Program of Excellence

Funding Agency:
University of Pennsylvania

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.

Letter of Intent Deadline: Apr. 5, 2019

Agency Website

Areas of Interest

 While the RFA is broad in scope, priority will be given to grants that cover the following areas:

1) Novel therapeutic approaches for CDD

2) Validation of phenotypes in CDKL5 function or disease pathophysiology

3) Systems biology and computational modeling approaches 

4) Novel application of imaging and functional techniques

5) Discovery and validation of CDKL5 biomarkers

Eligibility Requirements

All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Biopharmaceutical companies are not eligible to apply; however, we will consider applications from contract research organizations who provide services that are responsive to the RFA.



Funding Type





Medical - Basic Science
Medical - Clinical Science
Medical - Translational

External Deadline

April 5, 2019