Observational Study in Patients with Cyclin-dependent Kinase-like 5 Deficiency Disorder (CANDID)

Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
• Intervention / Treatment: Other: No intervention; observational

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.

• Study Type: Observational
• Enrollment (Actual): 112

Contacts and Locations

Study Locations

• Canada
  • Calgary, Canada, T3B 6A8
    • Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
  • Toronto, Canada
    • The Hospital of Sick Children
• France
  • Paris, France, 75015
    • Hôpital Necker- Enfants Malades
• Germany
  • Berlin, Germany, 14050
    • DRK Berlin - Epilepsiezentrum und Neuropädiatrie
  • Vogtareuth, Germany, 83569
    • Schön Klinik Vogtareuth
• Italy
  • Florence, Italy, 50139
    • Azienda Ospedaliero-Universitaria Meyer
  • Roma, Italy, 00168
    • Fondazione Policlinico Universitario A Gemelli, IRCCS
  • Rome, Italy
    • Ospedale Pediatrico Bambino Gesu
  • Verona, Italy, 37126
    • Azienda Ospedaliera Universitaria Integrata di Verona
• Spain
  • Madrid, Spain, 28009
    • Hospital Infantil Universitario Nino Jesus
  • Madrid, Spain, 28034
    • Ruber Internacional Hospital
  • Madrid, Spain
    • Hospital UniversitarioVithas Madrid
  • Madrid, Spain
    • Ruber Internacional Hospital
• United Arab Emirates
  • Dubai, United Arab Emirates
    • Mediclinic
• United States
  • California
    • Los Angeles, California, United States, 90095
      • UCLA Mattel Children's Hospital
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Children's Hospital Colorado
  • Georgia
    • Norcross, Georgia, United States, 30093
      • Center for Rare Neurological Diseases
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hospital
  • New York
    • New York, New York, United States, 10016
      • New York University
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center
    • Cleveland, Ohio, United States, 44195
      • The Cleveland Clinic
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Childrens Hospital of Philadlephia Division of Neurology
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 55 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
0-2 Years of Age; Patients from birth to 2 years of age at time of study entry	Other: No intervention; observational; No intervention; observational
3-5 Years of Age; Patients aged 3 to 5 years at time of study entry	Other: No intervention; observational; No intervention; observational
6-12 Years of Age; Patients aged 6 to 12 years at time of study entry	Other: No intervention; observational; No intervention; observational
13-55 Years of Age; Patients aged 13 to 55 years at time of study entry	Other: No intervention; observational; No intervention; observational

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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.	Baseline

Secondary Outcome Measures

Outcome 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

Collaborators and Investigators

• Sponsor: Loulou Foundation

Study record dates

Study Major Dates

• Study Start (Actual): September 30, 2022
• Primary Completion (Estimated): January 20, 2027
• Study Completion (Estimated): January 20, 2027

Study Registration Dates

• First Submitted: May 6, 2022
• First Submitted That Met QC Criteria: May 9, 2022
• First Posted (Actual): May 13, 2022

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 5, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: CDKL5; CDD; Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
• Additional Relevant MeSH Terms: Pathologic Processes; Disease
• Other Study ID Numbers: LLF001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No