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

Status

Indicates the current recruitment status or the expanded access status.
Active, not recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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 Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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
        • Schon 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 Niño Jesús
      • 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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
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)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 30, 2022

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 20, 2027

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 20, 2027

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 6, 2022

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 9, 2022

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 13, 2022

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 25, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 5, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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.

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