CDKL5 Registry

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What is the CDKL5 Registry?

The CDKL5 Registry collects data for research and pharmaceutical development, as well as helps caregivers track their loved one’s symptoms. With patient consent, the CDKL5 Registry also advances scientific knowledge by sharing de-identified (anonymous) data with researchers around the world. The CDKL5 Registry also offers families the opportunity to learn about and participate in CDKL5 clinical studies, including drug trials. The CDKL5 Registry is a joint effort funded and supported by the LouLou Foundation and the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine.

The CDKL5 Registry is one of three platforms worldwide that research CDKL5 Deficiency Disorder, including:

The International CDKL5 Disorder Database (ICDD) is an ongoing research database which has used data provided by caregivers to inform multiple publications in the scientific and medical literature since 2012. The ICDD is managed by researchers at Telethon Kids Institute, an independent non-profit research organization affiliated with the University of Western Australia and co-located with the Perth Children’s Hospital. Families will also be able to provide consent for data that they have submitted to the CDKL5 Registry to be accessed by the ICDD.

Connect CDKL5 is a contact platform for caregivers. It is used to let caregivers know of opportunities to participate in focus groups, attend events and advocate for their loved ones with CDD. Connect CDKL5 is sponsored by the International Foundation for CDKL5 Research.

We invite all caregivers to enroll with each of these three groups. By working together, we help further research and advocacy efforts for all those affected by CDKL5 Deficiency Disorder.

Who can participate in the CDKL5 Registry?

The CDKL5 Registry is open to the global CDKL5 community. All legal guardians - parents or caregivers - of individuals with CDKL5 Deficiency Disorder are encouraged to participate. (Only legal guardians and those who have been granted permission by a legal guardian can participate.)

Currently, the CDKL5 Registry is only available in English but multi-language capabilities are expected to be available by end of 2020.

Why should I register my affected child or loved one?

The CDKL5 Registry lets you track and view your loved one’s data and, once sufficient data is collected, compare it against the CDKL5 community as a whole. You will get an idea of what is common and what to expect, which can bring needed peace of mind to a situation that too often feels unpredictable. The CDKL5 Registry also provides opportunities for you to enroll in clinical trials, although you are never required to take part in a clinical trial.

The CDKL5 Registry helps you track:

Seizure frequency
Insomnia
Night terrors
Apnea
Milestones (first time to roll over, lift head, crawl, walk and talk)
Reflux
Constipation

What does the CDKL5 Registry research?

The CDKL5 Registry aims to increase understanding of CDD symptoms and progression. It will also be used to support clinical trials of potential treatments.

What happens to our data? How will our data and privacy be protected?

When you enroll in the CDKL5 Registry, you give permission for participating researchers, clinicians, pharmaceutical companies and other businesses to access your data. You can request your data be removed at any time by contacting the CDKL5 Registry. However, the CDKL5 Registry cannot take back information that was shared before you changed your mind.

You will be asked to sign this Informed Consent Agreement in order to participate in the CDKL5 Registry. This Agreement explains all the ways in which your data will be used and protected.

The CDKL5 Registry is both HIPAA and GDPR compliant and was approved by the University of Pennsylvania Institutional Review Board on March 1, 2018. In addition, all Orphan Disease Center study staff are trained on Good Clinical Practices, the international standard for conducting research involving human beings.

Please contact us with questions or to remove your data.

How do I register my loved one?

It all begins when you click “Register Now.” You will be walked through the steps to create an account and provide informed consent, and then you will get access to the CDKL5 Registry surveys.

As a participant in the CDKL5 Registry, you will be asked to complete a variety of surveys about your affected child or loved one. This is an ongoing process, so do not feel like you need to complete everything at once. Just save your data and come back later. For the surveys that only need to be updated every six to 12 months, we will email you a reminder.

Before you can get started with the surveys, you must first:

Create Your Account. In order to provide data, you first need to set up an account and confirm that you are the parent or legal guardian of the person with CDD.
Provide Informed Consent. After you create your account, you will be asked to sign this Informed Consent Agreement. The Agreement explains exactly how your data will be used and asks your permission to use it. If you do not sign the Informed Consent Agreement, you cannot participate in the CDKL5 Registry.

Once you have completed these steps, you can login to the CDKL5 Registry and get started.