To identify and validate which existing drugs could be repurposed to treat CDKL5 deficiency disorder. The project is a collaboration between Healx, the LouLou Foundation and the University of Insubria.
CDKL5 gene
Identification of potential treatment for CDKL5 syndrome
Amber Partridge age 12
The Project
Data evaluation and curation
Identification of candidate compounds
In vitro validation
In vivo validation
5 Months
Ongoing
The Challenge
CDKL5 is an ultra rare X‐linked genetic deficiency disorder that affects about 1500 people worldwide, resulting in early-onset, difficult-to-control seizures, and severe neurodevelopmental impairment. CDKL5 doesn’t have any currently approved treatment and the disease pathways are not fully identified and researched.
Ultra rare disease, 1500 Patients worldwide
No current treatment
Disease pathways are not fully identified
Outcomes
A. Candidate Compound Identification
Healx identified that an existing drug could have beneficial effects in the treatment of CDKL5 deficiency disorder, redressing the imbalance in neurotransmission caused by the genetic abnormality.
B. Experimental In Vitro Validation
The initial results are based on in vitro experiments, and remarkably, the compound identified by Healx was able to counteract the effect of CDKL5 removal on neurotransmitter receptors.
| GluR2 | MAP2 | Merge | |
| shLacZ |  |
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| shlSA2 |  |
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| shlSA2 |  |
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Experimental in vitro research by the University of Insubria. Healx repurposing candidate shows functional activity in reversing the disease-related phenotype in neurons silenced for CDKL5
Next Steps
The compound is now being validated in vivo and discussions are in progress to determine how to take this drug effectively to the next stage of development.
Partners
This work was supported by a research grant from the University of Pennsylvania Orphan Disease Center on behalf of Loulou Foundation.
