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

March 5, 2025 updated by: Loulou Foundation

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

Intervention / Treatment

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

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

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 Gesù
      • 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

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

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)
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.
Baseline
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.
Baseline
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.
Baseline
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.
Baseline

Secondary Outcome Measures

Outcome Measure
Time Frame
Changes in test results over time.
Time Frame: 36 months
36 months
Correlations between age and test results.
Time Frame: 36 months
36 months
Correlations between gender and test results.
Time Frame: 36 months
36 months
Correlation between test results and seizure severity.
Time Frame: 36 months
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Loulou Foundation

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

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

Additional Relevant MeSH Terms

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

Clinical Trials on No intervention; observational

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Paraguay

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe