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    GENE:

    CDKL5 (Cyclin Dependent Kinase Like 5)

    i
    Other names: CDKL5, Cyclin Dependent Kinase Like 5, Cyclin-Dependent Kinase-Like 5, CFAP247, EIEE2, STK9, Serine/Threonine-Protein Kinase 9, Serine/Threonine Kinase 9, Cyclin Dependent Kinase 5 Transcript, DEE2, ISSX
    Associations

    News

    Trials
    3ms
    Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old (clinicaltrials.gov)
    P3, N=20, Not yet recruiting, Marinus Pharmaceuticals | Trial completion date: Mar 2027 --> Sep 2028 | Trial primary completion date: Dec 2026 --> Sep 2028
    Trial completion date • Trial primary completion date
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    CDKL5 (Cyclin Dependent Kinase Like 5)
    9ms
    A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder (clinicaltrials.gov)
    P3, N=87, Active, not recruiting, Zogenix, Inc. | Trial completion date: Jun 2026 --> Nov 2027 | Trial primary completion date: Feb 2025 --> Nov 2027
    Trial completion date • Trial primary completion date
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    CDKL5 (Cyclin Dependent Kinase Like 5)
    1year
    A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder (clinicaltrials.gov)
    P3, N=87, Active, not recruiting, Zogenix, Inc. | Recruiting --> Active, not recruiting
    Enrollment closed
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    CDKL5 (Cyclin Dependent Kinase Like 5)
    1year
    A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling. (PubMed, Heliyon)
    A targeted analysis to study synaptic plasticity in cerebellum and hippocampus showed reduced Gabra1 and Gabra5 expression levels in females, whereas Gabra1 expression was increased in males, suggesting an opposite, sex-dependent regulation of the GABA receptor expression already described in humans. In conclusion, the novel Cdkl5E364X mouse model is characterized by robust neurological and neurobehavioral alterations, associated with a molecular profile related to synaptic function indicative of a cerebellar GABAergic hypofunction, pointing to Gabra1 and Gabra5 as novel druggable target candidates for CDD.
    Preclinical • Journal
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    CDKL5 (Cyclin Dependent Kinase Like 5)
    over1year
    Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old (clinicaltrials.gov)
    P3, N=20, Not yet recruiting, Marinus Pharmaceuticals | Trial completion date: Dec 2024 --> Mar 2027 | Trial primary completion date: Dec 2024 --> Dec 2026
    Trial completion date • Trial primary completion date
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    CDKL5 (Cyclin Dependent Kinase Like 5)
    over2years
    Activating NSD2 Mutations Drive Oncogenic Reprogramming By Disturbing Epigenetic Landscape in Mantle Cell Lymphoma (ASH 2023)
    In MCL, NSD2 mutations, especially p.E1099K and p.T1150A, are found in 10-15% of cases of MCL and are enriched in MCL patients who relapse from targeted therapies such as ibrutinib, an inhibitor of B cell signaling... The NSD2 mutation led to increased tumor cell growth but decreased apoptosis due to the dysregulation of epigenetic landscape and gene expression, suggesting an oncogenic reprogramming driven by activated NSD2 mutations in MCL.
    IO biomarker
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    TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • BAX (BCL2-associated X protein) • BCL2L2 (BCL2 Like 2) • CCNE2 (Cyclin E2) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) • ANXA5 (Annexin A5) • CDKL5 (Cyclin Dependent Kinase Like 5) • CDKN2D (Cyclin Dependent Kinase Inhibitor 2D) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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    TP53 mutation
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    Imbruvica (ibrutinib)
    almost3years
    NSD2 mutation drives oncogenic programming in mantle cell lymphoma (AACR 2023)
    NSD2 mutations, especially p.E1099K and p.T1150A, were identified in 10-15% of cases of MCL and are enriched in patients who relapse from targeted therapies such as ibrutinib... The NSD2 mutation led to increased tumor cell growth but decreased apoptosis due to the dysregulation of epigenetic landscape and transcriptome, suggesting an oncogenic reprogramming driven by an activated NSD2 mutation in MCL.
    IO biomarker
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    TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • BAX (BCL2-associated X protein) • BCL2L2 (BCL2 Like 2) • CCNE2 (Cyclin E2) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) • ANXA5 (Annexin A5) • CDKL5 (Cyclin Dependent Kinase Like 5) • CDKN2D (Cyclin Dependent Kinase Inhibitor 2D) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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    TP53 mutation
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    Imbruvica (ibrutinib)