Patient Referral

• Aim 1:  Generate, validate, and refine a suite of COMs necessary to comprehensively assess disease modification in CDD.​

• Aim 2: Conduct a multi-site clinical trial readiness study to assess implementation, longitudinal stability, and collect baseline COMs and EEG/evoked potential data.

The ICCRN has developed a CDKL5 Clinical Severity Assessment (CCSA) to better determine severity in individuals with CDKL5 Deficiency Disorder. This scale allows us to investigate relationships between severity and outcomes. The CCSA scale is broken into three parts: Clinician, Parent and Developmental.      

• Clinical CDKL5 Severity Scale – Clinician (CCSA-Clinician): The CCSA-Clinician allows providers to assess severity in a clinic setting.       
• Clinical CDKL5 Severity Scale – Parent Caregiver (CCSA-Parent Caregiver): The CCSA-Parent Caregiver allows caregivers to provide additional information about their child's severity day-to-day outside of the clinic setting.    
• CDKL5 Deficiency Disorder – Developmental Assessment (CDD-DA): CDD-DA allows caregivers to comment on their child's developmental features outside of the clinic setting.

In addition,  we are excited to announce the development of a new clinical outcome assessment called the Communication Inventory Disability - Observer Report (CID-OR). CID-OR was created alongside parents/caregivers of people with CDD and it is designed to capture real-world communication behaviors and interactions, providing a more accurate and meaningful assessment of functional communication. This tool has been integrated into our suite of outcome assessments to support a comprehensive evaluation 

To obtain a comprehensive picture of health in our CDD patients we also collect the following COMs:      

• Communication and Symbolic Behavior Scales – Developmental Profile Infant Toddler Checklist (CSBS-DP ITC): The CSBS-DP ITC is used to capture the communication level of patients with CDD.      
• Quality of Life - Disability (QI-Disability): The QI-Disability assessment collects important information on parent/caregiver quality of life measures.
• Sleep Disorder Scale for Children (SDSC): The SDSC measures the impact of sleep behaviors on health.      

In order to get an accurate picture of the motor skills of patients with CDD under the remote model of data collection, the following were developed:   

• CDKL5 Deficiency Disorder – Hand Function Assessment (CDD-Hand)   
•  CDKL5 Deficiency Disorder – Gross Motor Assessment (CDD-Motor) 

The development of an EEG marker unique to CDD through collecting data on Visual and Audio Evoked Potentials.

We share de-identified data with the National Institutes for Mental Health (NIMH) Data Archive (NDA) as well as with the Database for Genotypes and Phenotypes (dbGaP). We also collaborate with researchers across institutions.