Epigenetic Prevention and Treatment of CDKL5 Deficiency Disorder

Tech ID: 32876 / UC Case 2019-800-0


Researchers at the University of California, Davis have developed a targeted epigenetic approach for the prevention and treatment CDKL5 deficiency disorder.

Full Description

CDKL5 is a gene found on the X-chromosome that is responsible for producing an essential protein for brain development and function. Mutations of this gene can lead to CDKL5 deficiency disorder (CDD), affecting around 1 in 40,000 individuals. Symptoms typically begin in infancy and include seizures, limited motor functionality, and developmental delays. Anti-seizure medications are used to treat symptoms of the disorder, but there are currently no comprehensive treatments for CDD. Research has been conducted on small-molecule drugs to treat CDD and similar X-linked disorders through gene reactivation; however, such drugs typically cause global gene reactivation of the X-chromosome, making them unsuitable for targeted treatments. Furthermore, these treatments have limited therapeutic potential as they rely on cell proliferation to function.

Researchers at the University of California, Davis have developed a new targeted approach for preventing and treating CDD. In particular, the new approach uses CRISPR/Cas9-based techniques to guide epigenetic modifiers to desired genomic loci, thus enabling a synthetic escape of the CDKL5 gene from X-chromosomal inactivation while avoiding global X-chromosomal reactivation.


  • Prevention or treatment of CDKL5 deficiency disorder


  • Focuses on target allele without global X-chromosome reactivation 
  • Does not rely on cell proliferation

Patent Status

Country Type Number Dated Case
United States Of America Published Application 20220389393 12/08/2022 2019-800


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  • Deng, Peter
  • Fink, Kyle
  • Halmai, Julian

Other Information


X-chromosome reactivation, XCR, CDKL5, CDKL5 deficiency disorder, CDD, X-chromosome inactivation, XCI, epigenetic, CRISPR

Categorized As

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