Healx

The Project

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

Gene

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

Ultra rare disease, 1500 Patients worldwide

No current treatment

No current treatment

Disease pathways are not fully identified

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.

Compound

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
shlSA2
shlSA2

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.

University of Pennsylvania

Universitas Studiorum Insubriae

Loulou Foundation