The Orphan Disease Center in association with the University of Pennsylvania and the Loulou Foundation just announced their 2018 Pilot Grant Program for CDKL5 Deficiency Disorder.
CDKL5 deficiency disorder (CDD) is a condition in which the CDKL5 gene is mutated. People with this mutation experience severe motor and cognition disability and also have epileptic seizures that are resistant to typical treatments. As an orphan disease, CDD is very rare and affects a very small proportion of the population. As a result, there are very limited treatment options available for people with the disorder. In addition, the specific mechanism of the disorder is still poorly understood; new research could help reveal precisely how the deficiency leads to the debilitating symptoms that are experience by patients with CDD. To learn more about CDKL5 deficiency disorder, click here.
Hopefully, this grant program will begin the process of changing the situation. The grant will award a total of $150,000 to fund a year of research for the study of CDD. The program is looking for applicants that will contribute towards the development and/or discovery of new treatments and cures for CDD. The announcement does not specify how many grants will be awarded through the program. Treatment approaches and research that will be considered include but are not necessarily limited to the following:
- Treatment approaches such as genomic editing, small molecule repurposing, biologics, or RNA-based mechanisms
- Validation of phenotypes of CDKL5 function via genetic or pharmacological therapies. Specifically, approaches that allow for CDKL5 isoforms to be identified in order to rescue phenotypes (post-translational modifiers, alternative splicing or promoter usage).
- Modeling approaches that have the potential to give a more in-depth understanding the function of CDKL5, other possible interactions, and regulation of gene expression.
- New imaging or functional methods for phenotyping CDD in a clinical setting or in pre-clinical models. These could include diffusion tensor imaging, structural/functional MRI, magnetic resonance spectroscopy, and measuring the impact of gene therapy.