Condition: CDKL5 · CDKL5 Deficiency Disorder · CDD · Sponsor: University of Colorado, Denver
Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result in failure of these therapies, not due to lack of efficacy but due to lack of validated outcome measures and biomarkers. The measures and biomarkers validated here will be adaptable to other developmental and epileptic encephalopathies.
This description comes directly from the study's public registry record.
Sharon R Pincus, MA · 303-949-7116 · sharon.pincus@cuanschutz.edu
Scott T Demarest, MD MSCS · iccrn@childrenscolorado.org
Always discuss trial participation with your own doctor first.
| University of California Los Angeles/UCLA Mattel Children's Hospital | Los Angeles, California, United States | Recruiting |
| University of Colorado Denver/Children's Hospital Colorado | Aurora, Colorado, United States | Recruiting |
| Harvard Medical School/Boston Children's Hospital | Boston, Massachusetts, United States | Recruiting |
| Washington University in St. Louis/St. Louis Children's Hospital | St Louis, Missouri, United States | Recruiting |
| NYU Langone Health | New York, New York, United States | Recruiting |
| Cleveland Clinic Foundation | Cleveland, Ohio, United States | Recruiting |
| Children's Hospital of Philadelphia | Philadelphia, Pennsylvania, United States | Recruiting |
| Baylor College of Medicine/ Texas Children's Hospital | Houston, Texas, United States | Recruiting |
| Telethon Kids Institute/Perth Children's Hospital | Perth, Nedlands Western Australia, Australia | Recruiting |
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Source record: clinicaltrials.gov/study/NCT05558371