Status:
ACTIVE_NOT_RECRUITING
Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder
Lead Sponsor:
Loulou Foundation
Conditions:
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
Eligibility:
All Genders
Up to 55 years
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 pa...
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 t...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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
Key Trial Info
Start Date :
September 30 2022
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 20 2027
Estimated Enrollment :
112 Patients enrolled
Trial Details
Trial ID
NCT05373719
Start Date
September 30 2022
End Date
January 20 2027
Last Update
March 10 2025
Active Locations (23)
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1
UCLA Mattel Children's Hospital
Los Angeles, California, United States, 90095
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
3
Center for Rare Neurological Diseases
Norcross, Georgia, United States, 30093
4
Boston Children's Hospital
Boston, Massachusetts, United States, 02115