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Our overall goal is to find the most effective treatments for CDKL5 Deficiency Disorder (CDD).   Clinical trials and studies that bring helpful treatments to children and adults with CDD need ways to measure that a treatment is really helpful (or not). 

To reach our goal, we need to create useful clinical measures for CDD.  Useful means: 

1) it measures something meaningful to all individuals with CDD 

2) it captures changes that might happen with treatment

3) it can be used consistently across all sites

We need CDD families to enroll in the NIH Clinical Trials Readiness Study (19-2756, PI: Scott Demarest) to test these measures so we can make sure they are useful!

​CDKL5 Deficiency Disorder (CDD) is more than just seizures.  CDD also involves health areas such as GI, sleep, motor function, communication, cortical vision impairment (CVI) and more.  We want to develop treatments that help all areas of health and functioning in CDD.  To do this, clinical trials need to accurately measure health and functioning to properly evaluate the new treatments.  While seizures seem straightforward to measure, CDD still needs tailored instruments that can measure all the other symptoms.  

We are doing the NIH Clinical Trials Readiness Study (19-2756, PI: Scott Demarest) to equip the CDD community with tools to measure all areas of health and functioning, but we need your help!  

In order to test the measures we have designed, we need 140 CDD children and adults to enroll in the final longitudinal phase of our NIH Clinical Trials Readiness study (19-2756, PI: Scott Demarest) AND complete all questionnaires, exams and video assessments.  

This final phase began on February 1, 2023 and will enroll until January 31, 2024.  Participants will complete in-person visits every six-months as well as online questionnaires and video assessments.  Families who previously participated as "1 of 200" can continue into this longitudinal phase of the study and NEW families are welcome to enroll too!

Yes!  While researchers can only measure some things by seeing a child or adult with CDD in-person, there are a lot of things that can be measured from home.  Please reach out to ICCRN@childrenscolorado.org to get more information.

If you don't see your question answered here or on the FAQ page, please contact us and we will happy to get back to you.