How do researchers find information about those living with CDKL5 Deficiency Disorder (CDD)?
In the early stages of treatment discovery, researchers often utilize natural history studies, patient advocacy organizations, and large research databases from around the world. Research on Humans is conducted only with permission from an IRB approval.
What is an IRB?
The Institutional Review Board (IRB) is an administrative body established to protect the rights and welfare of human research subjects recruited to participate in research activities conducted under the auspices (support and approval) of the institution with which it is affiliated.
Is social media used for the recruitment of IRB approved human studies?
No. Social media is often utilized for advertising a study by pointing you to its third-party platform where you can learn more about the research project, including participation criteria, risks, and enrollment details. It should never be the only platform for soliciting participants, rather a tool to point you towards study details.
How do I find clinical trial information?
The active clinical trials for individuals with CDKL5 can be found at ClinicalTrials.gov as well as on our website. IFCR also sponsors the Connect CDKL5 platform, an international platform for patients with CDD and their caretakers. Enrolling in this platform will help the community to answer urgent questions such as incidence & the prevalence of CDD around the world. In return, Connect CDKL5 will notify you of research and trial opportunities, and if you choose, you can also elect to share your information with researchers when you register. We ask a few questions about you and your loved one living with CDD that are required, and we also ask about the patient’s CDKL5 genetic mutation but do not require that you share that information to complete your registration.
Are there other ways that we can contribute to research or that researchers can find us?
How important is research participation for the global CDD research community?
Very! It is vital that we provide researchers with a variety of tools to better understand CDD.
The CDKL5 COE Clinical Study seeks to improve our understanding of the neurologic and non-neurologic aspects of the disorder associated with variants in the CDKL5 gene and how this disorder evolves over time. Clinicians will gather medical information through medical record reviews, family reports, physical examinations, and clinical data. They will collect information during clinic visits, gather supplemental data from your home medical team if appropriate, and request copies of MRI and EEG data if done elsewhere. Data will be collected on an ongoing basis for patients who are seen regularly in the clinic, and for all enrolled subjects, we will ask for updates at least once a year.
By enrolling in any of the CDKL5 Registries and/or the CDKL5 Clinic Study (by visiting a COE), your child’s CDKL5 genetic variant information will be collected and used with your permission. You can choose to be contacted about future research when enrolling in these studies. Then if future treatment trials are appropriate for any subsets of individuals with CDD based on genetic variant or other factors, you can be contacted to discuss eligibility. Keep in mind that recruitment occurs after a study is approved by the human subjects ethics board (IRB), and in the US, all clinical trials are listed in clinicaltrials.gov and additional clinical research opportunities can be found on our website.
Although we are hopeful for disease-modifying therapies for CDKL5 deficiency disorder in the future, we do not have any targeted treatments available at this time.
In the meantime, through observational studies, researchers can investigate the nuanced effects of genetic variants and other clinical factors and how those may relate to various potential treatment approaches. Please don’t hesitate to reach out to IFCR if we can help answer any questions you might have about CDKL5 Deficiency Disorder research opportunities.