Cyclin-Dependent Kinase-Like 5 Deficiency DisorderCANDIDNCT05373719
Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder
An observational study of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, run by Loulou Foundation at 23 sites in 7 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 55 years
- Conditions the study is for
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
- How many people
- 112 participants
- Where
- 23 sitesin 7 countries
- Study dates
- 30 Sep 2022to 20 Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 55 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
23 sites in 7 countries.
23 sites in 7 countries
United States9 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
Boston Children's Hospital
Boston, Massachusetts, 02115
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
The Cleveland Clinic
Cleveland, Ohio, 44195
Baylor College of Medicine
Houston, Texas, 77030
UCLA Mattel Children's Hospital
Los Angeles, California, 90095
New York University
New York, New York, 10016
Center for Rare Neurological Diseases
Norcross, Georgia, 30093
Childrens Hospital of Philadlephia Division of Neurology
Philadelphia, Pennsylvania, 19104
Italy4 sites
Azienda Ospedaliero-Universitaria Meyer
Florence, 50139
Fondazione Policlinico Universitario A Gemelli, IRCCS
Roma, 00168
Ospedale Pediatrico Bambino Gesù
Rome
Azienda Ospedaliera Universitaria Integrata di Verona
Verona, 37126
Spain4 sites
Hospital Infantil Universitario Niño Jesús
Madrid, 28009
Ruber Internacional Hospital
Madrid, 28034
Hospital UniversitarioVithas Madrid
Madrid
Ruber Internacional Hospital
Madrid
Canada2 sites
Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
Calgary, T3B 6A8
The Hospital of Sick Children
Toronto
Germany2 sites
DRK Berlin - Epilepsiezentrum und Neuropädiatrie
Berlin, 14050
Schön Klinik Vogtareuth
Vogtareuth, 83569
About this study
Official title: 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.
Read the 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.
- Being tested
- No intervention; observational
- Keywords
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, CDKL5, CDD
- Medical subject headings
- Epilepsies, Myoclonic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention; observationalOther
No intervention; observational
| Study group | Role | What they receive |
|---|---|---|
| 0-2 Years of Age | Patients from birth to 2 years of age at time of study entry Receives: Other: No intervention; observational | |
| 3-5 Years of Age | Patients aged 3 to 5 years at time of study entry Receives: Other: No intervention; observational | |
| 6-12 Years of Age | Patients aged 6 to 12 years at time of study entry Receives: Other: No intervention; observational | |
| 13-55 Years of Age | Patients aged 13 to 55 years at time of study entry Receives: Other: No intervention; observational |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Baseline
Secondary outcomes (4)
Changes in test results over time.
Measured: 36 months
Correlations between age and test results.
Measured: 36 months
Correlations between gender and test results.
Measured: 36 months
Correlation between test results and seizure severity.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2022
- Study start30 Sep 2022
- Primary completion20 Jan 2027 (estimated)
- Study completion20 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cyclin-Dependent Kinase-Like 5 Deficiency DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 112 participants (actual)
Sponsor and investigators
- Lead sponsor
- Loulou Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05373719
- Sponsor's protocol ID
- LLF001
- Acronym
- CANDID
- Status last verified
- Mar 2025
- First submitted
- 6 May 2022
- Last updated
- 10 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)
- ClinicalTrials.gov ID
- NCT05373719
- Acronym / sponsor ID
- CANDID / LLF001
- Keywords
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, CDKL5, CDD
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 112 participants (actual)
- Lead sponsor
- Loulou FoundationUniversity, hospital or other
- Study start
- 30 Sep 2022 (actual)
- Primary completion
- 20 Jan 2027 (estimated)
- Study completion
- 20 Jan 2027 (estimated)
- First posted
- 13 May 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 0-2 Years of Age | – | Other: No intervention; observationalPatients from birth to 2 years of age at time of study entry |
| 3-5 Years of Age | – | Other: No intervention; observationalPatients aged 3 to 5 years at time of study entry |
| 6-12 Years of Age | – | Other: No intervention; observationalPatients aged 6 to 12 years at time of study entry |
| 13-55 Years of Age | – | Other: No intervention; observationalPatients aged 13 to 55 years at time of study entry |
Who may qualify
- Ages
- Up to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention; observationalNo intervention; observational | Other | 0-2 Years of Age, 13-55 Years of Age, 3-5 Years of Age, 6-12 Years of Age |
Primary outcome
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.
4 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2025.
- Individual participant dataSharing planned: Yes
Related trials for Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
Not yet recruitingPhase 3
Open-label, Single-arm Trial of Ganaxolone in CDD Patients 6 Months to Less Than 2 Years Old
CDKL5 Deficiency Disorder
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Not yet recruiting
Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A PROBE Clinical Trial
CDKL5 Deficiency Disorder
Active, not recruitingPhase 3
A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder.
CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure
RecruitingObservational study
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
Epilepsy in Children, Dyskinesias
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
23 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder, run by Loulou Foundation at 23 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 10 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 23 sites in United States, Italy, Spain, Canada, Germany and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4) (time frame: Baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Mar 2025.