International registry for CDKL5 Deficiency Disorder
Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry
University of Pennsylvania · NCT04486768
This study is creating a global registry to gather information from patients with CDKL5 Deficiency Disorder to better understand the condition and keep families informed about new developments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | University of Pennsylvania (other) |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT04486768 on ClinicalTrials.gov |
What this trial studies
This observational study aims to establish an international registry for patients diagnosed with CDKL5 Deficiency Disorder (CDD) to collect comprehensive demographic, patient-reported outcomes, and treatment data. The registry will enroll up to 500 patients and will gather data from both patients/caregivers and clinicians over several years. Data will be collected at enrollment and subsequently on a bi-annual or annual basis, with no additional procedures required. The goal is to enhance understanding of CDD's natural history and facilitate communication with patients and families regarding relevant updates.
Who should consider this trial
Good fit: Ideal candidates include patients of any age diagnosed with CDKL5 Deficiency Disorder or their legal guardians.
Not a fit: Patients without a confirmed diagnosis of CDKL5 Deficiency Disorder or those unable to provide consent through a legal guardian may not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could significantly improve the understanding of CDKL5 Deficiency Disorder and inform better treatment strategies for patients.
How similar studies have performed: Other similar registries have shown success in enhancing understanding of rare disorders, making this approach promising yet still relatively novel for CDD.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * 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.)
Where this trial is running
Philadelphia, Pennsylvania
- University of Pennsylvania Orphan Disease Center — Philadelphia, Pennsylvania, United States (RECRUITING)
Study contacts
- Principal investigator: Dan Lavery, PhD — Director, CDKL5 Program of Excellence, Orphan Disease Center
- Study coordinator: Theresa E Berger, MBE
- Email: ODCRegistry@pennmedicine.upenn.edu
- Phone: 445-236-4543
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: CDKL5 Deficiency Disorder, CDKL5, CDD, CDKL5 Disorder, CDKL5 Deficiency, pediatric epilepsy, epilepsy, CDKL5 Registry