International CDKL5 Clinical Research Network
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-100
SponsorUniversity of Colorado, Denver
About this trial
Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result in failure of these therapies, not due to lack of efficacy but due to lack of validated outcome measures and biomarkers. The measures and biomarkers validated here will be adaptable to other developmental and epileptic encephalopathies.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
All children diagnosed with CDD age 1-month to 100 years of age that are receiving care at one of the study institutions or are registered with the International CDKL5 Disorder Database will be considered for the study population.
Disqualifiers
Individuals who do not meet study inclusion criteria.
Trial population
Patients with CDKL5 Deficiency Disorder (CDD).
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
No intervention.
Other interventionNo intervention administered as part of this study; observational only.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician)
Measured by clinician rating of patient. Item scores are transformed to a scale of 0-100 and the total score is calculated as a mean item score. Higher scores indicate higher severity.
Time frame
5 years2
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Caregiver (CCSA-Caregiver)
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
Time frame
5 years3
CDKL5 Deficiency Disorder (CDD) Development Questionnaire - Caregiver (CDQ-Caregiver)
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
Time frame
5 years4
Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS-DP ITC)
Measured by caregiver/parent rating of patient on a 24-item questionnaire. Three composite scores and a total score can be derived. Items contribute to the 0-57 point scale for the total score with lower scores indicating concerns for communication skills.
Time frame
5 yearsSecondary outcomes
1
Frequency of different mutations in the CDKL5 Deficiency Disorder population
Measured by information obtained from genetic reports of enrolled participants.
Time frame
5 years2
Frequency of medications and their indications in the CDKL5 Deficiency Disorder population
Measured by medication/indication data obtained from medical record review and/or caregiver report.
Time frame
5 years3
Social Determinants of Health (SDOH) in CDKL5 Deficiency Disorder population
Measured by data elements that are collected to describe the socioeconomic status of the study population. Examples include caregiver education level, marital status and employment status, patient living situation, household income, and primary caregiver information.
Time frame
5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
University of Colorado, Denver
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
National Institutes of Health (NIH)
Collaborator
International Foundation for CDKL5 Research
Collaborator
Source ClinicalTrials.gov