ALLMedicine™ CDKL5 Center
Research & Reviews 192 results
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,
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...
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...
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 ...
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...
Drugs 1 results see all →
Clinicaltrials.gov 12 results
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 ...
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...
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...
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...
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 ...
News 2 results
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.
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...