A Collaborative Partnership to Develop the CDKL5 Registry
CDKL5 Deficiency Disorder (CDD) is a rare developmental encephalopathy with epilepsy that is caused by mutations in the CDKL5 gene. CDD can manifest in a broad range of clinical symptoms and severity. The hallmarks are early- onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:42,000 live births, making it one of the most common forms of genetic epilepsy.
The CDKL5 Registry is open to the global CDKL5 community and was launched in 2018 utilizing Pulse Infoframe’s healthie™ platform. The CDKL5 Registry was developed in collaboration with the Loulou Foundation and the Orphan Disease Center at the University of Pennsylvania’sPerelman School of Medicine. The CDKL5 Registry collects data for research and therapeutic development, and helps caregivers track their lovedone’s symptoms. An upgraded version of the CDKL5 Registry with new features and multiple languages launched in 2022.
CDKL5 Registry Partners
The CDLK5 Registry was created in collaboration with the Loulou Foundation and the Orphan Disease Center at theUniversity of Pennsylvania. The Loulou Foundation is a private non-profit UK foundation dedicated to advancing research into the understanding and development of therapeutics for CDKL5 Deficiency Disorder. The Orphan Disease Center facilitates and funds rare disease research, and supports the development of transformative therapies for rare diseases.
Why Was the CDKL5 Registry Started?
The CDKL5 Registry was initiated in 2018 to:
- Help caregivers track their loved one’s CDKL5 Deficiency Disorder (CDD) symptoms
- Provide the CDD community with a centralized, modern, easy-to-use data collection platform
- Support ongoing research and therapeutic development in CDD on a regulatory- and data protection-compliant platform.
- Alert families to clinical trials and research opportunities that may be of interest
- What Is Captured?
Capturing caregiver-reported data as part of the CDKL5 Registry helps the CDD community understand:
- Important developmental trajectories and milestones for individuals with CDD
- Differences in patient symptoms that may arise due to CDD mutation type
- Challenges faced by CDD patients and family members
- What Has Been Achieved?
With the CDD community’s commitment to the Registry and supporting data collection initiatives, the following have been possible:
- Multiple pharmaceutical companies working to develop treatments for CDD
- Support and alignment with a multi-center NIH- funded research study to develop clinical outcome measures specifically suited for CDD
- The formation of an unprecedented pre- competitive industry consortium and launch of the CANDID Study
- Development of a GUID by Pulse Infoframe to align CDD patient data from multiple sources
Changing the Landscape for CDKL5 Deficiency Disorder
Prior to the launch of the Registry, CDD natural history data had not been systematically captured, reported, or analyzed. This resulted in a significant gap in the understanding of patient symptoms and potential treatments.
With consent of the Registry participants, the de- identified (anonymous) data captured within the CDKL5 Registry will be shared with researchers around the world to help advance CDD knowledge. Registry participants also have the opportunity to receive notifications for clinical trials and research opportunities, and learn more about the worldwide CDD community through the Registry’s new dashboard.
This has all been possible due to the recent release of the upgraded CDKL5 Registry platform.
What’s Next for the CDKL5 Registry?
The CDKL5 Registry benefits from the healthie™ platform which is continuously updated with new features for users. The registry is now available in English, French, Italian, Spanish and German. Additional languages including Arabic, Chinese, Russian, and Japanese are currently in development.
Changing the Future for Individuals with CDKL5 Deficiency Disorder
Daniel Lavery, Chief Scientific Officer at the Loulou Foundation is encouraged by the data that has been collected within the CDKL5 Registry.
“The registry has transformed drug development for our community. There’s now hope we’ll have effective treatments that respond to the community’s unmet needs.”
To learn more about the CDKL5 Registry, visit the registry’s website.
