Help Get CDKL5 Clinical Trial Ready!

Advancing CDKL5 Deficiency Clinical Trial Readiness

While the capability for disease-modifying therapies is accelerating, there is a critical barrier for clinical trial readiness in our CDKL5 community that may result in the failure of these therapies, not due to lack of efficacy but due to lack of validated clinical outcome measures (COMs).

New research is underway to help our CDD community develop appropriate tools for future clinical trials. These tools, known as clinical outcome measures (COMs), will establish clinical trial readiness for CDD and generate historic baseline outcome data, ensuring optimal testing of potential new therapeutics, including gene therapy. There are no measures validated for CDD, and the severity of this condition renders those outcome measures that exist unsuitable.

Who is doing this research?

The Co-Directors of the International CDKL5 Disorder Database (ICDD)- a rich natural history Australian database collecting parent-reported and genetic data and the Directors of the eight IFCR-funded CDKL5 Centers of Excellence (COEs) – a network of clinics throughout the USA that specialize in the care of patients with CDKL5 Deficiency Disorder (CDD) actively participate in collaborative research infrastructure, the International CDKL5 Clinical Research Network (ICCRN). This network was initiated through IFCR funding and will conduct this research study.

Initial Phase: Be 1 of 200 – Complete

The initial phase had big goals for collecting a robust set of data! Specifically, the goal was to generate, validate, and refine a suite of COMs necessary to comprehensively assess disease modification in CDD so we are trial ready.​ We asked CDKL5 patients to be “1 of 200” – 1 of 200 patients who could be counted as a “complete data set” in this research. A complete data set included visiting one of our US-based CDKL5 Centers of Excellence and participating in clinical exams. It was a big ask, but our CDKL5 community embraced the challenge! To be exact, one hundred forty-three (143!) patients and families! As a rare disease, we shot for the moon with our goal of 200 and landed in the stars with data moving the study onto the final phase! Many thanks to all who participated!

What’s Next? Longitudinal Study – Enrolling Now!

In the longitudinal phase, we will ask more of our families. This phase aims to conduct a multi-site clinical trial readiness study to assess implementation, longitudinal stability, and collect baseline COMs and EEG/evoked potential data. Five site visits over two-three years with required online questionnaires between those visits. Stay tuned for more details on what you can expect.

How will participation in this research help us get closer to better treatments and cures?

Validated, standardized clinical outcome measures (COMs) will accurately and reproducibly track meaningful changes in clinical trials, ensuring optimal testing of potential new therapeutics, including gene therapy. Even if only one measure is reliable, it will be a significant tool for the research-ready community kit. To direct clinical care, scientists will also use this information to capture the range of clinical severity and quality of life.

How Can I Learn More About Participation?

Is there any way to participate from home?

Even if you can not travel, your data is important. Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder Home Video Study:

Participation will involve the collection of video footage of your CDD-affected child’s movement skills. They will provide you with a video checklist that lists the motor tasks for you to video. They will also provide you with online access to a sample video. They will ask you to take video footage in short clips for each of the motor tasks listed in the protocol.
*The time period required to videotape your child doing these specific activities is ~ 30-45 minutes for gross motor skills and 20 minutes for hand function tasks.

If you would like to participate in this research or discuss any aspect of this study, don’t hesitate to get in touch with Associate Professor Jenny Downs (E:, Associate Professor  Helen Leonard (E:, or Dr. Jacinta Saldaris (E:

Who is sponsoring this research, and what is the official name of the study?

Multi-site validation of biomarkers and core clinical outcome measures for clinical trial readiness in CDKL5 Deficiency Disorder. This project is supported by the NIH-NINDS (U01NS114312-01A1).

About International CDKL5 Disorder Database (ICDD):

In the past, CDKL5 Deficiency was considered an atypical form of Rett syndrome, but this team’s research published in 2012 established CDD is an independent disorder. Since their 2012 publication, this team has established and further developed the ICDD. This has been done in collaboration with the International Foundation for CDKL5 Research. Data collection commenced in September 2012 and involved families of individuals with the CDKL5 disorder completing a questionnaire that has now been translated into French, German, Spanish, Mandarin, Portuguese, Russian, and Japanese. More than 350 individuals are now registered with the database; the largest proportions of cases come from the USA, Canada, Australia, the UK, Germany, France, the Netherlands, and Brazil. However, they now have over 20 other countries represented.

About International CDKL5 Clinical Research Network (ICCRN):

ICCRN is a network of clinics throughout the USA specializing in the care of patients with CDKL5 Deficiency Disorder (CDD) actively participating in collaborative research infrastructure, the International CDKL5 Clinical Research Network (ICCRN). ICCRN seeks to answer clinically significant questions to drive improvements in patients’ clinical care with CDD. This research network is uniquely positioned to develop clinical trial readiness for CDD by pairing exceptional experience in developing and validating outcome measures with an extensive network of CDD experts and clinical trialists. IFCR funding supported an infrastructure that allows data sharing across multiple sites.

Industry Inquiries: International CDKL5 Clinical Research Network (ICCRN)