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.
CDKL5, CDKL5 Deficiency Disorder, CDD
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.
International CDKL5 Clinical Research Network
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University of California Los Angeles/UCLA Mattel Children's Hospital, Los Angeles, California, United States, 90095
University of Colorado Denver/Children's Hospital Colorado, Aurora, Colorado, United States, 80045
Harvard Medical School/Boston Children's Hospital, Boston, Massachusetts, United States, 02115
Washington University in St. Louis/St. Louis Children's Hospital, Saint Louis, Missouri, United States, 63110
NYU Langone Health, New York, New York, United States, 10016
Cleveland Clinic Foundation, Cleveland, Ohio, United States, 44195
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104
Baylor College of Medicine/ Texas Children's Hospital, Houston, Texas, United States, 77030
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
1 Month to 100 Years
ALL
No
University of Colorado, Denver,
Timothy A Benke, MD PhD, PRINCIPAL_INVESTIGATOR, University of Colorado, Denver
2027-02-15