Learn About CDKL5 Deficiency Disorder

What is the definition of CDKL5 Deficiency Disorder?

CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.

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What are the causes of CDKL5 Deficiency Disorder?

As its name suggests, CDKL5 deficiency disorder is caused by variants (also known as mutations) in the CDKL5 gene. This gene provides instructions for making a protein that is essential for normal brain development and function.

How prevalent is CDKL5 Deficiency Disorder?

CDKL5 deficiency disorder appears to be a rare condition with an incidence of 1 in 40,000 to 60,000 newborns. About 90 percent of those diagnosed with CDKL5 deficiency disorder are girls.

Is CDKL5 Deficiency Disorder an inherited disorder?

This condition is inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a variant in one of the two copies of the CDKL5 gene in each cell causes the disorder. In males (who have only one X chromosome), a variant in the only copy of the gene causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

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What are the latest CDKL5 Deficiency Disorder Clinical Trials?
Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone in the Treatment of Seizures Associated With Genetically Confirmed Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD) in Pediatric Patients From 6 Months to Less Than 2 Years of Age.

Summary: This study will assess the efficacy, safety, and tolerability of ganaxolone (GNX) compared with placebo (PBO) as adjunctive therapy to the participant's standard anti-epileptic medication for the treatment of seizures in pediatric patients from 6 months to less than 2 years old with genetically confirmed CDD during a 12-week, DB phase. Pharmacokinetic (PK) assessments and population PK analyses wi...

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Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry

Summary: Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An international patient registry aimed at collecting both patient/caregiver and clinician-entered demographic, patient-reported outcome (PRO) and treatment data would benefit both the scientific and patient...

Who are the sources who wrote this article ?

Published Date: May 09, 2022Published By: National Institutes of Health

What are the Latest Advances for CDKL5 Deficiency Disorder?
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
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