An observational study in Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, sponsored by Loulou Foundation. Active, not recruiting at 23 sites in 7 countries. Open to participants aged Up to 55 Years. Per ClinicalTrials.gov, last updated 2025-03-10.
Sponsored by Loulou Foundation · Observational
Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.
This is an observational study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in approximately up to 100 patients aged birth to 55 years and diagnosed with cyclin-dependent kinase-like 5 deficiency disorder. Operational performance across age groups and languages will be assessed throughout the study, and Baseline cohort characteristics will be assessed throughout enrollment.
This is the only study on the registry with Loulou Foundation as lead sponsor.
Counted across the registry records on this site, refreshed daily.
This is a multi-center study to be conducted in multiple countries. The study will enroll patients diagnosed with Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder, from birth to 55 years of age, at a participating site.
Exclusion Criteria:
Patients from birth to 2 years of age at time of study entry
Other: No intervention; observational
Patients aged 3 to 5 years at time of study entry
Other: No intervention; observational
Patients aged 6 to 12 years at time of study entry
Other: No intervention; observational
Patients aged 13 to 55 years at time of study entry
Other: No intervention; observational
No intervention; observational
Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)
Suitability of this cognition and global development scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Vineland 3
Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Gross Motor Function Measure (GMFM)
Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Sleep Disturbance Scale for Children (SDSC)
Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Changes in test results over time.
Time frame: 36 months
Correlations between age and test results.
Time frame: 36 months
Correlations between gender and test results.
Time frame: 36 months
Correlation between test results and seizure severity.
Time frame: 36 months
Plan to share: Yes
No publications or documents are linked to this record.
This study is active, not recruiting, as verified in Mar 2025. You cannot join it, but the record below documents what was studied.
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