Frequently Asked Questions - FAQs

This study is being conducted at eight CDKL5 Centers of Excellence around the United States, including:

• Boston Children's Hospital 
• Children's Hospital Colorado (Data Coordinating Center)
• Baylor College of Medicine
• Children's Hospital of Philadelphia
• Cleveland Clinic Foundation
• New York University Langone Health
• University of California LA
• Washington University in St. Louis School of Medicine

Children's Hospital Colorado is the data coordinating site for this research meaning they will maintain a central database for the study.  The University of Western Australia is another academic organization involved in this study. 

Absolutely!   

While we do really want to see families in person to be able to collect all of our data points, we understand that that is not possible for families for various reasons.  So although a “complete dataset” or complete visit must include a physical visit to a CDKL5 Center of Excellence (COE) with a COE doctor, there are portions of the study that can be completed at home and are super valuable for us to collect.   This would include the video studies as well as the accompanying questionnaires.  

All of our nationwide sites work closely with our partners the Telethon Kids Institute in Australia who collect the video recordings remotely.  You may have heard from Helen, Jenny or Jacinta before as they recruit for their International CDKL5 Disorder Database or the ICDD , but our US COEs have been fortunate to team up with them to collect video measures remotely for families inside and outside the US.  

Please reach out to the ICCRN team to learn more about what’s possible for you to participate in. If you are from outside the US and want to participate remotely, you will enroll through our partners in Australia.    If you are in the US, and want to participate remotely you will enroll through our Project Manager here at the Colorado central site.  

The video study and accompanying questionnaires are part of the ICCRN’s clinical trial readiness efforts, but we have a NEW goal of 140 “complete datasets”.  A complete dataset includes a physical visit to a CDKL5 Center of Excellence (COE) as well as completion of the accompanying questionnaires as close to the in-person visit as possible.   We REALLY REALLY value the video data and questionnaires from our remote enrollees so please participate and enroll even if you can't get to a Center of Excellence clinic!  If you are able to get to a COE clinic visit, then you would be able to participate towards our NEW 1 of our 140 goal. 

Now that we have begun the final longitudinal phase of the NIH CDKL5 Clinical Trials Readiness Study (19-2756, PI: Scott Demarest), we are asking families to complete the following over two years:

• In-person visits every 6 months (5 total over 2 years or 24 months)
• Online questionnaires about every 1-6 months depending on the survey
• Video measures every 6 months and then only twice in the second year
• One-month daily seizure diary (every day for one-month or 30 days total)

For the next year (now until January 31, 2024), we are focused on enrolling 140 participants who are willing to complete the study measures above over 2 years or 24 months from when they enroll.  We appreciate everyone who can make that happen!  

But remember, if you can't come physically to clinic, please still participate in the remote portions of the study because that data is super valuable!  

No. There is no cost to participate in the study site visit.      

However, you are responsible for the costs associated with traveling to the site (i.e. transportation, food, lodging).     

If possible, study staff will try to schedule your research visit on a day when you might have another clinical visit and already be at the hospital so we can reduce extra trips for busy families.  

At this time, no. There may be blood work collected in the future, but this would be an additional consent conversation where you have the option to participate or not.      

Currently, patients seen at our Boston, Baylor, CHOP and Colorado sites can participate in the EEG portion of the study.  For this part of the study, we use an EEG cap which feels like wearing a swim cap and requires no glue.  This part of the study is optional and takes about 1-2 hours.