CDKL5 disorder
MONDO:0100039A monogenic disease that has material basis in mutation in the CDKL5 gene.
Also known as: CDKL5 Deficiency Disorder, CDKL5 disorder, CDKL5 inherited genetic disease, inherited genetic disease caused by mutation in CDKL5, CDKL5, CDKL5-related disorder
9 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for rare epilepsy: drug shows promise in phase 3 trial
Disease control OngoingThis Phase 3 study tests whether fenfluramine (ZX008) can safely reduce seizures in 87 children and adults with CDKL5 deficiency disorder, a rare genetic condition causing severe epilepsy. Participants receive either the drug or a placebo, followed by an open-label extension wher…
Phase: PHASE3 • Sponsor: Zogenix, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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New registry aims to unlock secrets of rare CDKL5 disorder
Knowledge-focused TerminatedThis study creates a registry for up to 500 people with CDKL5 Deficiency Disorder (CDD), a rare genetic condition that causes seizures and developmental delays. Patients and their caregivers will provide information about symptoms, treatments, and quality of life over several yea…
Sponsor: University of Pennsylvania • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC