CDKL5 Deficiency Disorder (CDD)NCT04486768
International CDKL5 Registry
An observational study of CDKL5 Deficiency Disorder (CDD), run by University of Pennsylvania at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- CDKL5 Deficiency Disorder (CDD)
- What is being tested?
- Survey Instrument
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Dec 2018to 31 Dec 2028
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Person of any age, living or deceased;
- Be a patient or the legal guardian (parent or caregiver) of a patient with a diagnosis of CDD (Diagnoses must be confirmed by a clinician or genetic test);
- Have the ability to understand and complete an informed consent process where applicable per local regulations or have a legal guardian to provide consent on the patient's behalf if the patient is under the legal age, per local regulations, or otherwise unable to provide consent.
Who cannot join
- Patient with a diagnosis of CDD who is under the legal age, per local regulations, enrolling without a legal guardian;
- Legal guardian of a patient who is 1) over the legal age, per local regulations, and 2) is able to read and provide consent and enter data. (We require that patients over the legal age who are capable of reading and understanding and informed consent provide data directly.)
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania Orphan Disease Center
Philadelphia, Pennsylvania, 19104
About this study
Official title: Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry
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.
- Conditions
- CDKL5 Deficiency Disorder (CDD)
- Being tested
- Survey Instrument
- Keywords
- CDKL5, CDD, CDKL5 Disorder, CDKL5 Deficiency, pediatric epilepsy, epilepsy, CDKL5 Registry, CDKL5 Patient Registry, CDD Registry, CDD Patient Registry
- Medical subject headings
- CDKL5 deficiency disorder, Epilepsies, Myoclonic, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Survey InstrumentOther
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
Measured by data obtained from genetic reports of enrolled patients.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: up to 5 years
Secondary outcomes (4)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2020
- Study start5 Dec 2018
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Why it stopped: The Registry is being changed to a new online platform provider. The Registry will resume once the platform transfer has been completed.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CDKL5 Deficiency Disorder (CDD)Studies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- Loulou Foundation, International Foundation for CDKL5 Research, CDKL5 Alliance
- Responsible party
- Sponsor
- Investigators
- Dan Lavery, PhD, Principal investigator, Director, CDKL5 Program of Excellence, Orphan Disease Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04486768
- Sponsor's protocol ID
- ODC-IPR-CDD-01
- Status last verified
- Apr 2026
- First submitted
- 6 Feb 2020
- Last updated
- 21 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
Study at a glance
From the registry record, last updated by the sponsor on 21 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry
- ClinicalTrials.gov ID
- NCT04486768
- Acronym / sponsor ID
- ODC-IPR-CDD-01
- Conditions
- CDKL5 Deficiency Disorder (CDD)
- Keywords
- CDKL5, CDD, CDKL5 Disorder, CDKL5 Deficiency, pediatric epilepsy, epilepsy, CDKL5 Registry, CDKL5 Patient Registry
- Study type
- Observational
- Recruitment status
- SuspendedReason stopped: The Registry is being changed to a new online platform provider. The Registry will resume once the platform transfer has been completed.
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- Loulou Foundation, International Foundation for CDKL5 Research, CDKL5 Alliance
- Study start
- 5 Dec 2018 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 27 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (3 listed)
- Person of any age, living or deceased;
- Be a patient or the legal guardian (parent or caregiver) of a patient with a diagnosis of CDD (Diagnoses must be confirmed by a clinician or genetic test);
- Have the ability to understand and complete an informed consent process where applicable per local regulations or have a legal guardian to provide consent on the patient's behalf if the patient is under the legal age, per local regulations, or otherwise unable to provide consent.
Key exclusion criteria (2 listed)
- Patient with a diagnosis of CDD who is under the legal age, per local regulations, enrolling without a legal guardian;
- Legal guardian of a patient who is 1) over the legal age, per local regulations, and 2) is able to read and provide consent and enter data. (We require that patients over the legal age who are capable of reading and understanding and informed consent provide data directly.)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Survey InstrumentThis 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. | Other | – |
Primary outcome
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
Time frame: 1 year
Measured by data obtained from genetic reports of enrolled patients.
Caregiver reported longitudinal assessments to quantify seizure frequency over time.
Time frame: 1 year
Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
Caregiver reported longitudinal assessment of sleep quality in patients over time.
Time frame: up to 5 years
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.
Caregiver reported assessment of GI disturbances in patients over time and across age groups.
Time frame: up to 5 years
Measured by rating of gastroesophageal reflux, dysphagia, constipation, bowel incontinence, bloating and distension at 1 year intervals over a period of 5 years.
Caregiver reported longitudinal assessment of supplement use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescription medications.
Time frame: up to 5 years
Measured by percent of patients using clinician prescribed or over the counter (OTC) supplements.
Caregiver reported longitudinal assessment of diet use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescribed medications.
Time frame: up to 5 years
Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
4 secondary outcomes
Caregiver reported time to attainment of developmental milestones.
Time frame: up to 5 years
Medication use in patients by age group.
Time frame: 1 year
Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.
Time frame: up to 5 years
Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.
Time frame: up to 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Apr 2026.
- Individual participant dataSharing planned: Yes. Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
Related trials for CDKL5 Deficiency Disorder (CDD)
Not yet recruitingPhase 3
Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old
CDKL5 Deficiency Disorder
Active, not recruitingPhase 3
A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder.
CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure
Active, not recruitingObservational study
Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
RecruitingObservational study
International CDKL5 Clinical Research Network
CDKL5, CDKL5 Deficiency Disorder
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dan Lavery, PhD principal investigator
Director, CDKL5 Program of Excellence, Orphan Disease Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CDKL5 Deficiency Disorder (CDD), run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: paused, as of the sponsor's last update on 21 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD). (time frame: 1 year). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Apr 2026.