An observational study in CDKL5 Deficiency Disorder (CDD), sponsored by University of Pennsylvania. Suspended at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-04-21.
Sponsored by University of Pennsylvania · Observational
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.
87 studies on the registry are indexed under Epilepsies, Myoclonic; 23 are open to participants now.
This study's planned enrollment of 500 is above the median of 90 across 19 observational studies indexed under Epilepsies, Myoclonic.
Browse Epilepsies, Myoclonic studies →University of Pennsylvania is the lead sponsor of 1,635 studies on the registry; 239 are open to participants now.
Of its 154 completed or terminated interventional studies of FDA-regulated products, 104 (68%) have results posted.
Counted across the registry records on this site, refreshed daily.
We expect to enroll up to 500 CDD patients over a 5 year period. As CDD affects people globally, we anticipate enrollment from several countries. Patients will learn about the registry through the Orphan Disease Center's social media presence, disease-specific foundations, other families impacted by CDD and/or physicians involved in the registry.
Exclusion Criteria:
This registry contains several surveys that will be released for patient/caregiver completion at enrollment and at time points following enrollment. These surveys can be completed on any computer that is connected to the internet.
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
Measured by data obtained from genetic reports of enrolled patients.
Time frame: 1 year
Caregiver reported longitudinal assessments to quantify seizure frequency over time.
Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
Time frame: 1 year
Caregiver reported longitudinal assessment of sleep quality in patients over time.
Measured by mean rating of sleep disruptions indicated by collective score of night terrors and excessive daytime somnolence at 1 year intervals over a period of 5 years.
Time frame: up to 5 years
Caregiver reported assessment of GI disturbances in patients over time and across age groups.
Measured by rating of gastroesophageal reflux, dysphagia, constipation, bowel incontinence, bloating and distension at 1 year intervals over a period of 5 years.
Time frame: 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.
Measured by percent of patients using clinician prescribed or over the counter (OTC) supplements.
Time frame: 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.
Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
Time frame: up to 5 years
Caregiver reported time to attainment of developmental milestones.
Measured by rating of indicated skills (e.g. sitting up, crawling, standing, hand use and gestures) at 1 year intervals over a period of 5 years.
Time frame: up to 5 years
Medication use in patients by age group.
Measured by percentage of patients reporting use of selected approved prescription medications as part of CDKL5 Deficiency Disorder (CDD) management plan.
Time frame: 1 year
Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.
Measured by the mean number of hospital visits leading to admissions at 1 year intervals over 5 years.
Time frame: up to 5 years
Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.
Measured by the percentage of patients reporting a respiratory infection at 1 year intervals over 5 years.
Time frame: up to 5 years
Plan to share: Yes — Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
Supporting information: Study protocol, Icf
No publications or documents are linked to this record.
This study is suspended, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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CDKL5 deficiency disorder
University of Pennsylvania