Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
Conditions
Keywords
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, CDKL5, CDD
Brief summary
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.
Detailed description
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.
Interventions
No intervention; observational
Sponsors
Loulou Foundation
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 55 Years
Healthy volunteers
No
Inclusion criteria
1. Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants 2. Ages newborn to 55 years old 3. Parent/Caregiver who is willing and capable of providing written informed consent 4. Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study
Exclusion criteria
1. Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD). 2. Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate 3. Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sleep Disturbance Scale for Children (SDSC) | Baseline | Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate. |
| Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4) | Baseline | 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. |
| Vineland 3 | Baseline | Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate. |
| Gross Motor Function Measure (GMFM) | Baseline | Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate. |
Secondary
| Measure | Time frame |
|---|---|
| Changes in test results over time. | 36 months |
| Correlations between age and test results. | 36 months |
| Correlations between gender and test results. | 36 months |
| Correlation between test results and seizure severity. | 36 months |
Countries
Canada, France, Germany, Italy, Spain, United Arab Emirates, United States
Outcome results
None listed