About CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is caused by mutations in CDKL5 (cyclin-dependent kinase-like 5), an X-linked gene encoding a kinase critical for synapse formation and function. Onset occurs in the first months of life with seizures that are typically severe, frequent, and highly refractory to antiseizure medications. Additional features include hypotonia, absence of purposeful hand use, limited or absent speech, and stereotyped hand movements. While previously considered a Rett variant, CDD is now recognized as a distinct disorder.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to CDKL5 Deficiency Disorder trials.
CDKL5 pathogenic variant confirmed on sequencing (hemizygous in males, heterozygous in females) is required for all trials
Baseline seizure frequency diary over minimum 3 months documenting seizure types and frequency is required
Prior antiseizure medication trials (number and response) are documented to confirm refractory status for interventional trials
CDKL5-specific functional assessment tools (CSBS, Bayley-III adapted, CDD-specific scales) are the primary outcome measures
Patient Resources
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