Stopped: The Registry is being changed to a new online platform provider. The Registry will resume once the platform transfer has been completed.
Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An international patient registry aimed at collecting both patient/caregiver and clinician-entered demographic, patient-reported outcome (PRO) and treatment data would benefit both the scientific and patient communities. This CDD registry will follow up to 500 patients diagnosed with CDD over several years through both the patients/caregivers and their clinicians. Initial data will be collected upon enrollment in the registry, followed by the collection of additional CDD-specific data on a bi-annual/ annual basis. No procedures will be performed as part of this registry. Clinician-entered data will be collected following standard of care visits conducted as part of patients' ongoing clinical care. Ultimately, the goal is to create a contact registry to allow patients/families to be alerted about relevant clinical trials and to collect valuable information that is accessible to the patient and scientific communities, thereby aiding and encouraging research in CDD.
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See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
Timeframe: 1 year
Caregiver reported longitudinal assessments to quantify seizure frequency over time.
Timeframe: 1 year
Caregiver reported longitudinal assessment of sleep quality in patients over time.
Timeframe: up to 5 years
Caregiver reported assessment of GI disturbances in patients over time and across age groups.
Timeframe: up to 5 years
Caregiver reported longitudinal assessment of supplement use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescription medications.
Timeframe: up to 5 years
Caregiver reported longitudinal assessment of diet use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescribed medications.
Timeframe: up to 5 years