- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05373719
Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder (CANDID)
February 1, 2024 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
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 Contact
- Name: Xavier Liogier, PhD
- Phone Number: +33 7 49 90 14 21
- Email: xliogier@louloufoundation.org
Study Locations
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Calgary, Canada, T3B 6A8
- Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
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Toronto, Canada
- The Hospital of Sick Children
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Paris, France, 75015
- Hopital Necker- Enfants Malades
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Berlin, Germany, 14050
- DRK Berlin - Epilepsiezentrum und Neuropädiatrie
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Vogtareuth, Germany, 83569
- Schon Klinik Vogtareuth
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Florence, Italy, 50139
- Azienda Ospedaliero-Universitaria Meyer
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Roma, Italy, 00168
- Fondazione Policlinico Universitario A Gemelli, IRCCS
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Rome, Italy
- Ospedale Pediatrico Bambino Gesù
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Verona, Italy, 37126
- Azienda Ospedaliera Universitaria Integrata Di Verona
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Madrid, Spain, 28009
- Hospital Infantil Universitario Nino Jesus
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Madrid, Spain, 28034
- Ruber Internacional Hospital
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Madrid, Spain
- Hospital UniversitarioVithas Madrid
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Madrid, Spain
- Ruber Internacional Hospital
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Dubai, United Arab Emirates
- Mediclinic
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California
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Los Angeles, California, United States, 90095
- UCLA Mattel Children's Hospital
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Colorado
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Aurora, Colorado, United States, 80045
- Children's Hospital Colorado
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Georgia
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Norcross, Georgia, United States, 30093
- Center for Rare Neurological Diseases
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Boston Children's Hospital
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New York
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New York, New York, United States, 10016
- New York University
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Ohio
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Cincinnati, Ohio, United States, 45229
- Cincinnati Children's Hospital Medical Center
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Cleveland, Ohio, United States, 44195
- The Cleveland Clinic
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19104
- Childrens Hospital of Philadlephia Division of Neurology
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Texas
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Houston, Texas, United States, 77030
- Baylor College of Medicine
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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:
- 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 Criteria:
- 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
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 |
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0-2 Years of Age
Patients from birth to 2 years of age at time of study entry
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No intervention; observational
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3-5 Years of Age
Patients aged 3 to 5 years at time of study entry
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No intervention; observational
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6-12 Years of Age
Patients aged 6 to 12 years at time of study entry
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No intervention; observational
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13-55 Years of Age
Patients aged 13 to 55 years at time of study entry
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No intervention; observational
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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
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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.
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Baseline
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Vineland 3
Time Frame: Baseline
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Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
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Baseline
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Gross Motor Function Measure (GMFM)
Time Frame: Baseline
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Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
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Baseline
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Sleep Disturbance Scale for Children (SDSC)
Time Frame: Baseline
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Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
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Baseline
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Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Changes in test results over time.
Time Frame: 36 months
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36 months
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Correlations between age and test results.
Time Frame: 36 months
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36 months
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Correlations between gender and test results.
Time Frame: 36 months
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36 months
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Correlation between test results and seizure severity.
Time Frame: 36 months
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36 months
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
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)
February 2, 2024
Last Update Submitted That Met QC Criteria
February 1, 2024
Last Verified
July 1, 2023
More Information
Terms related to this study
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
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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