International CDKL5 Clinical Research Network
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 accele
| Condition(s) | CDKL5, CDKL5 Deficiency Disorder, CDD |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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. |
| Who can participate | Inclusion Criteria: * All children diagnosed with CDD age 1-month to 100 years of age that are receiving care at one of the study institutions or are registered with the International CDKL5 Disorder Database will be considered for the study population. Exclusion Criteria: * Individuals who do not meet study inclusion criteria. |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Lead sponsor | University of Colorado, Denver |
| Locations | Los Angeles, California, United States; Aurora, Colorado, United States; Boston, Massachusetts, United States; St Louis, Missouri, United States; New York, New York, United States; Cleveland, Ohio, United States (+3 more sites) |
| Start date | 2021-02-15 |
| NCT ID | NCT05558371 |
| Official listing | https://clinicaltrials.gov/study/NCT05558371 |