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About 518 results

ALLMedicine™ CDKL5 Center

Research & Reviews  192 results

Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typica...
https://doi.org/10.1684/epd.2022.1480
Epileptic Disorders : International Epilepsy Journal With... Appendino JP

Aug 9th, 2022 - Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typical case|2022|Appendino JP,|diagnosis,genetics,genetics,genetics,genetics,

Wide range of phenotypic severity in individuals with late truncations unique to the pr...
https://doi.org/10.1002/ajmg.a.62940
American Journal of Medical Genetics. Part A; Keehan L, Haviland I et. al.

Aug 9th, 2022 - Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment. CDKL5 has mult...

Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mo...
https://doi.org/10.1111/cns.13907
CNS Neuroscience & Therapeutics; Fuchs C, Cosentino L et. al.

Aug 7th, 2022 - CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition, primarily affecting girls for which no cure currently exists. Neuronal morphogenesis and plasticity impairments as well as metabolic dysfunctions occur in CDD patients. The pr...

Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
https://clinicaltrials.gov/ct2/show/NCT03572933

Jul 26th, 2022 - The Marigold Study is a global, double-blind, placebo-controlled, Phase 3 clinical trial that will enroll approximately 70 patients between the ages of 2 and 21 with a confirmed disease-related CDKL5 gene variant. Patients will undergo a baseline ...

Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CD...
https://doi.org/10.1093/hmg/ddac164
Human Molecular Genetics; Viglione A, Sagona G et. al.

Jul 22nd, 2022 - Cyclin-dependent kinase-like 5 (Cdkl5) deficiency disorder (CDD) is a severe neurodevelopmental condition caused by mutations in the X-linked Cdkl5 gene. CDD is characterized by early-onset seizures in the first month of life, intellectual disabil...

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Drugs  1 results see all →

Clinicaltrials.gov  12 results

Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
https://clinicaltrials.gov/ct2/show/NCT03572933

Jul 26th, 2022 - The Marigold Study is a global, double-blind, placebo-controlled, Phase 3 clinical trial that will enroll approximately 70 patients between the ages of 2 and 21 with a confirmed disease-related CDKL5 gene variant. Patients will undergo a baseline ...

A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder
https://clinicaltrials.gov/ct2/show/NCT05064878

Jul 8th, 2022 - This is a 2-part multicenter trial. Part 1 is a 20-week randomized, double-blind, placebo-controlled, fixed-dose, parallel-group study to examine the efficacy and safety of ZX008 as an adjunctive therapy (to existing concomitant treatment with ant...

A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE S...
https://clinicaltrials.gov/ct2/show/NCT03694275

May 26th, 2022 - The drug being tested in this study is called soticlestat. Soticlestat is being tested to treat people with Dup 15q or CDD. This study will assess the effects of TAK-935 on seizure frequency, safety. The study will enroll approximately 30 particip...

Fenfluramine in CDKL5 Deficiency Disorder (CDD)
https://clinicaltrials.gov/ct2/show/NCT03861871

Apr 7th, 2022 - This study will be enrolling 10 patients, ages 2-18 years old, with a confirmed genetic/clinical diagnosis of CDKL5 Deficiency Disorder (CDD) in an open label trial of fenfluramine for seizure control. Patients will be titrated over 14 days to a d...

Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old
https://clinicaltrials.gov/ct2/show/NCT05249556

Feb 21st, 2022 - 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 ...

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News  2 results

News From NORD Round-Up: April 2016
https://www.mdedge.com/cardiology/article/108218/rare-diseases/news-nord-round-april-2016

Apr 21st, 2016 - Recent FDA Orphan Drug Designations and Approvals Are Published NORD has published a list of recent (over the past month) orphan drug designations and approvals. China Establishes Its First Center Dedicated to Diagnosis for Undiagnosed Patients In.

Genetic Testing May Help Direct Treatment in Epilepsy
https://www.staging.medscape.com/viewarticle/817939

Dec 17th, 2013 - WASHINGTON, DC — Genetic researchers are gathering important information on mutations linked to the development of epilepsy, including types of the disease that may be treatable. For example, a new report that analyzed genes most commonly associat...

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