International CDKL5 Clinical Research Network
This observational study is creating a network to better understand CDKL5 Deficiency Disorder (CDD), a severe condition affecting development and causing seizures. Researchers want to find better ways to measure how CDD affects people and identify biological markers (biomarkers) that could help in future treatment studies. This study doesn't involve any new treatments; instead, it collects information over 5 years using questionnaires and assessments completed by clinicians and caregivers. Anyone from 1 month to 100 years old with a CDD diagnosis who receives care at a study institution or is registered with the International CDKL5 Disorder Database can participate. The goal is to develop tools that will help test new therapies for CDD in the future.
- Study design
- This is an observational study with a planned enrollment of 1000 participants. It is not a treatment study, but rather focuses on collecting information.
- What's involved
- Participants will have their condition assessed by a clinician and caregivers will complete questionnaires over a period of 5 years.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for 5 years, with assessments at that time point.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
International CDKL5 Clinical Research Network
At a glance
Conditions
Where it's being run
9 sites across 9 statesStudy leadership
- Timothy A Benke, MD PhD · PRINCIPAL_INVESTIGATOR · University of Colorado, Denver
Who to contact
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Do you actually qualify for this trial?
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Inclusion
What this trial measures
- CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician)5 years
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.
- CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Caregiver (CCSA-Caregiver)5 years
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
- CDKL5 Deficiency Disorder (CDD) Development Questionnaire - Caregiver (CDQ-Caregiver)5 years
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
- Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS-DP ITC)5 years
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.
- Sleep Disorder Scale for Children (SDSC)5 years
Measured by caregiver/parent rating of patient on a 26- Likert type item questionnaire. Scale goes from 0-39 with a higher score indicating higher severity of sleep disorder. Each subscale is scored through the summation of all the subscale items. Comparing scores were the normative data reported in the initial validation paper, z-scores and t-scores can be derived. The t-score enables scores to be dichotomized as within normal range or outside of normal range, compared to the general population.
- Quality of Life Inventory - Disability (QI-Disability)5 years
This is a quality of life measure for children with intellectual disability. The measure comprises 32 items that are rated on a five-point Likert scale and group into six subscales: physical health, positive emotions, negative emotions, social interactions, independence, and leisure and outdoors. Following transformation to a 100-point scale, item scores in each subscale are summed and divided by the number of items to give a subscale score. The mean of the six subscale scores is calculated to give the total QOL score.
- CDKL5 Deficiency Disorder (CDD) Gross Motor (CDD-Motor)5 years
This is a video measure of gross motor function, based on the Rett Syndrome Gross Motor Scale with additional items that enable measurement of head control and sitting. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
- CDKL5 Deficiency Disorder (CDD) Fine Motor (CDD-Hand)5 years
This is a video measure of fine motor function based on the Rett Syndrome Hand Function Scale with additional instructions on filming for if the patient has Cortical Visual Impairment. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
- Electroencephalogram/Evoked Potentials (EEG/EP) characteristics in CDKL5 Deficiency Disorder.5 years
Measured by correlations of EEG/EP with other study scales.