Orphan Disease Center at Penn Medicine and LouLou foundation: CDKL5 Pilot Grant Program - One page LOI

Aim: projects directed toward the development of treatments or a cure for CDKL5 deficiency, a monogenic, orphan condition characterized by treatment-resistant epilepsy and severe cognitive and motor disability, as well as basic science projects that address the gaps in the basic understanding of CDKL5 and its role in neurologic development. Priority areas: • Small molecule therapeutics based on repurposing of existing drugs • Approaches to re-activate the silent CDKL5 allele • Identification of novel drug targets • Identification of biomarkers • Animal models • Novel therapeutic approaches such as gene replacement therapy, genome editing, and mRNA transfer. Funding: $150K for one year.

Note: please contact Research Authority if planning to submit - overhead not covered

https://www.med.upenn.edu/orphandisease/rare-disease-overview.shtml