CDKL5

CDKL5 deficiency disorder is a rare genetic condition that primarily affects the brain, leading to severe developmental and neurological problems. Life expectancy can be normal, but the condition requires lifelong care and therapy to manage symptoms and improve quality of life.

  • Cause: Caused by mutations in the CDKL5 gene on chromosome X, which is important for brain function. It mainly affects females due to the X-linked inheritance pattern.

  • Features: Severe developmental delay, movement disorders, seizures, inability to speak, and poor motor skills. Many also have intellectual disability and sleep disturbances.

  • Diagnosis: Confirmed through genetic testing for mutations in the CDKL5 gene.

  • Treatment: No cure; management focuses on controlling seizures, physical therapy, and supportive care to address developmental delays.

Active Trials

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Past Trials

  • TITLE: A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder

    SPONSOR: Zogenix, Inc.

    INDICATION: CDKL5 Deficiency Disorder

    PROTOCOL: ZX008-2103

    PHASE: 3

    DESCRIPTION: This is a multicenter, double-blind, parallel-group, placebo controlled, 2-part study to evaluate the efficacy and safety of ZX008 when used as adjunctive therapy for the treatment of uncontrolled seizures in children and adults with cyclin-dependent kinase like-5 (CDKL5) deficiency disorder (CDD).

    STATUS: Closed to Enrollment

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia