Observational Study in Patients with Cyclin-dependent Kinase-like 5 Deficiency Disorder
- Conditions
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
- Interventions
- Other: No intervention; observational
- Registration Number
- NCT05373719
- Lead Sponsor
- Loulou Foundation
- 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.
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 112
- Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
- Ages newborn to 55 years old
- Parent/Caregiver who is willing and capable of providing written informed consent
- Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study
- 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).
- 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
- Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description 0-2 Years of Age No intervention; observational Patients from birth to 2 years of age at time of study entry 13-55 Years of Age No intervention; observational Patients aged 13 to 55 years at time of study entry 3-5 Years of Age No intervention; observational Patients aged 3 to 5 years at time of study entry 6-12 Years of Age No intervention; observational Patients aged 6 to 12 years at time of study entry
- Primary Outcome Measures
Name Time Method 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.
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.
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.
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.
- Secondary Outcome Measures
Name Time Method 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 Changes in test results over time. 36 months
Trial Locations
- Locations (22)
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
The Cleveland Clinic
🇺🇸Cleveland, Ohio, United States
Childrens Hospital of Philadlephia Division of Neurology
🇺🇸Philadelphia, Pennsylvania, United States
UCLA Mattel Children's Hospital
🇺🇸Los Angeles, California, United States
Children's Hospital Colorado
🇺🇸Aurora, Colorado, United States
Center for Rare Neurological Diseases
🇺🇸Norcross, Georgia, United States
New York University
🇺🇸New York, New York, United States
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
🇨🇦Calgary, Canada
Hopital Necker- Enfants Malades
🇫🇷Paris, France
Schön Klinik Vogtareuth
🇩🇪Vogtareuth, Germany
DRK Berlin - Epilepsiezentrum und Neuropädiatrie
🇩🇪Berlin, Germany
Azienda Ospedaliero-Universitaria Meyer
🇮🇹Florence, Italy
Fondazione Policlinico Universitario A Gemelli, IRCCS
🇮🇹Roma, Italy
Ospedale Pediatrico Bambino Gesù
🇮🇹Rome, Italy
Azienda Ospedaliera Universitaria Integrata di Verona
🇮🇹Verona, Italy
Ruber Internacional Hospital
🇪🇸Madrid, Spain
Hospital Infantil Universitario Niño Jesús
🇪🇸Madrid, Spain
Hospital UniversitarioVithas Madrid
🇪🇸Madrid, Spain
Mediclinic
🇦🇪Dubai, United Arab Emirates
The Hospital of Sick Children
🇨🇦Toronto, Canada