CDKL5 deficiency disorder

Also Known As:

CDKL5 Disorder; Epileptic Encephalopathy, Early Infantile, 2; Infantile Spasm Syndrome, X-Linked 2; Rett Syndrome, Atypical, Cdkl5-Related; Rett Syndrome, Variant, With Infantile Spasms

Networked: 87 relevant articles (7 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Generalized Epilepsy: 896
        Infantile Spasms: 1454
        CDKL5 deficiency disorder: 87
      - Epileptic Syndromes: 883
        Infantile Spasms: 1454
        CDKL5 deficiency disorder: 87
        CDKL5 deficiency disorder: 87

Related Diseases

1.	Brain Diseases (Brain Disorder)
2.	Seizures (Absence Seizure)
3.	Myoclonic Epilepsies (Myoclonic Encephalopathy)
4.	Lennox Gastaut Syndrome
5.	Epilepsy (Aura)

Experts

1.	Leonard, Helen: 11 articles (10/2022 - 11/2016)
2.	Downs, Jenny: 10 articles (10/2022 - 11/2016)
3.	Olson, Heather E: 8 articles (01/2022 - 01/2017)
4.	Ciani, Elisabetta: 8 articles (05/2021 - 01/2017)
5.	Devinsky, Orrin: 7 articles (01/2022 - 01/2018)
6.	Fuchs, Claudia: 7 articles (05/2021 - 01/2018)
7.	Trazzi, Stefania: 7 articles (05/2021 - 01/2018)
8.	Demarest, Scott: 6 articles (10/2022 - 10/2018)
9.	Benke, Tim A: 6 articles (01/2022 - 01/2019)
10.	Gennaccaro, Laura: 6 articles (05/2021 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CDKL5 deficiency disorder:

1.	ganaxoloneIBA 11/01/2022 - "Ganaxolone: A New Treatment for CDKL5 Deficiency Disorder." 01/01/2022 - "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." 01/01/2023 - "Ganaxolone for management of seizures associated with CDKL5 deficiency disorder." 12/01/2022 - "Two drugs related to this field have been approved: brexanolone (Zulresso™) for the treatment of postpartum depression, and ganaxolone (Ztalmy™) for the treatment of CDKL5 deficiency disorder. " 06/01/2022 - "Ganaxolone received its first approval in March 2022 in the USA for the treatment of seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients 2 years of age and older. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2022 - "Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder." 03/01/2017 - "This updated gene model of Cdkl5 in rat provides a framework for studies into its protein products and provides a reference for the development of molecular therapies for testing in rat models of CDKL5 disorder." 01/01/2018 - "Our results suggest that CDKL5 protein therapy may be an effective clinical tool for the treatment of CDKL5 disorder." 01/01/2018 - "CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder." 09/16/2022 - "Differentially expressed CSF proteins distinguished Rett from a related neurodevelopmental disorder, CDKL5 deficiency disorder. "
3.	Biomarkers (Surrogate Marker)IBA 01/01/2017 - "Thus, monitoring visual responses represents a promising biomarker for preclinical and clinical studies on CDKL5 disorder." 01/01/2022 - "Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder." 01/01/2022 - "A number of promising therapeutics are under development for CDKL5 deficiency disorder but a lack of validated biomarkers of brain function and clinical severity may limit the ability to objectively assess the efficacy of new treatments as they become available. " 11/28/2022 - "Recently, mouse models of Cdkl5 disorder have demonstrated that mice lacking Cdkl5 exhibit autism-like phenotypes, hyperactivity and dysregulations of the arousal system, suggesting the possibility to use these features as translational biomarkers. " 01/01/2017 - "Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice."
4.	FenfluramineIBA 01/01/2021 - "Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder." 01/01/2022 - "Studies support the safety and efficacy of fenfluramine (FFA) as an antiseizure medication (ASM) in Dravet syndrome, Lennox-Gastaut syndrome, or CDKL5 deficiency disorder, all pharmacoresistant developmental and epileptic encephalopathies. " 12/01/2022 - "Current pharmacotherapy options for drug-resistant epilepsy include perampanel, brivaracetam and the newly approved cenobamate for focal epilepsies; cannabidiol (Epidiolex) for Lennox-Gastaut Syndrome (LGS), Dravet and Tuberous Sclerosis Complex (TSC); fenfluramine for Dravet syndrome and ganaxolone for seizures in Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. "
5.	LuteolinIBA 08/05/2022 - "Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder."
6.	Methyl-CpG-Binding Protein 2IBA 01/01/2020 - "In addition to summarizing the human work on Rett syndrome, we also describe relevant studies with animal models and the limited research that has been carried out on Rett-related disorders, particularly methyl-CpG binding protein 2 (MECP2) duplication syndrome, CDKL5 deficiency disorder, and FOXG1 disorder."
7.	Sodium Channel BlockersIBA 01/01/2021 - "This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy. " 01/01/2021 - "Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort."
8.	soticlestatIBA 01/01/2023 - "Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE)."
9.	Cyclin-Dependent Kinases (cdk Proteins)IBA 01/01/2023 - "Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. " 01/01/2023 - "The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. " 11/28/2022 - "Cyclin-dependent kinase-like 5 (Cdkl5) deficiency disorder (CDD) is a severe neurodevelopmental condition caused by mutations in the X-linked Cdkl5 gene. " 10/01/2022 - "Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). " 11/01/2021 - "To characterize the neuro-ophthalmological phenotype of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a reproducible, quantitative outcome measure. "
10.	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 10/14/2022 - "It is a serine/threonine protein kinase whose mutations are involved in CDKL5 Deficiency Disorder (CDD), a severe neurodevelopmental pathology still lacking a therapeutic intervention. " 08/21/2019 - "CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy caused by mutations in the X-linked CDKL5 gene that encodes a serine/threonine kinase. " 05/01/2020 - "Mutations in the CDKL5 gene, which encodes a serine/threonine kinase, causes a rare encephalopathy, characterized by early-onset epilepsy and severe intellectual disability, named CDKL5 deficiency disorder (CDD). " 01/01/2023 - "Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a devastating rare neurodevelopmental disease without a cure, caused by mutations of the serine/threonine kinase CDKL5 highly expressed in the forebrain. " 10/14/2022 - "Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase whose pathological mutations cause CDKL5 deficiency disorder. "

Therapies and Procedures

1.	Therapeutics 05/31/2021 - "To date there are no therapies for CDKL5 deficiency disorder (CDD). " 01/01/2021 - "Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder." 01/01/2020 - "Together, these findings unveil a previously unrecognized role for CDKL5 in nociception, proposing an original regulatory mechanism for pain perception with implications for future therapeutics in CDKL5 deficiency disorder." 01/01/2018 - "No therapy is available for CDKL5 disorder. " 10/01/2022 - "Herein, we develop a cross-correction-based strategy to enhance the efficiency of a gene therapy for CDKL5 deficiency disorder, a severe neurodevelopmental disorder caused by CDKL5 gene mutations. "
2.	Activities of Daily Living (ADL) 01/01/2017 - "A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures."
3.	Drug Therapy (Chemotherapy) 01/01/2020 - "Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder." 12/01/2022 - "Current pharmacotherapy options for drug-resistant epilepsy include perampanel, brivaracetam and the newly approved cenobamate for focal epilepsies; cannabidiol (Epidiolex) for Lennox-Gastaut Syndrome (LGS), Dravet and Tuberous Sclerosis Complex (TSC); fenfluramine for Dravet syndrome and ganaxolone for seizures in Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. "
4.	Vagus Nerve Stimulation 10/01/2018 - "Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder."
5.	Ketogenic Diet 01/01/2017 - "Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients."