Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder

Overview

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.

Full Title of Study: “Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: October 16, 2026

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

  • Other: No intervention; observational
    • No intervention; observational

Arms, Groups and Cohorts

  • 0-2 Years of Age
    • Patients from birth to 2 years of age at time of study entry
  • 3-5 Years of Age
    • Patients aged 3 to 5 years at time of study entry
  • 6-12 Years of Age
    • Patients aged 6 to 12 years at time of study entry
  • 13-55 Years of Age
    • Patients aged 13 to 55 years at time of study entry

Clinical Trial Outcome Measures

Primary Measures

  • Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)
    • Time Frame: 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
    • Time Frame: 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)
    • Time Frame: 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)
    • Time Frame: 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 Measures

  • 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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: 55 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Loulou Foundation
  • Provider of Information About this Clinical Study
    • Sponsor

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