Validation of Biomarkers and Clinical Outcome Measures for Trials in CDKL5 Deficiency Disorder Across Multiple Sites

What this Trial Is About

CDKL5 deficiency disorder CDD is a severe developmental and epileptic encephalopathy caused by changes in the CDKL5 gene. It involves difficulties with thinking, movement, and vision. Researchers are working to prepare for clinical trials by developing and validating new tests and biomarkers that can measure changes in the disease accurately, which is important for testing new treatments like gene therapy. This study focuses on improving tools to track disease progress and treatment effects in CDD and similar conditions. This observational study does not involve any treatment. Instead, it aims to gather important clinical data by using a range of outcome measures and biomarkers designed specifically for CDD. The research team will collect baseline and ongoing data across multiple sites, including clinical severity assessments, caregiver questionnaires, developmental checklists, sleep disorder scales, quality of life inventories, motor function tests, and EEGevoked potential recordings. Participants will be followed for up to five years with regular assessments to monitor disease status and changes. Researchers will collect detailed clinical and biological data to validate these tools, ensuring they can be used effectively in future clinical trials. The study will also track mutation types, medication use, and social factors affecting participants. Overall, this work aims to improve the readiness for testing new therapies in CDD by providing reliable ways to measure outcomes over time.

International CDKL5 Clinical Research Network