International CDKL5 Registry

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.

Study Overview

• Status: Recruiting
• Conditions: CDKL5 Deficiency Disorder (CDD)
• Intervention / Treatment: Other: Survey Instrument

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Theresa E Berger, MBE; Phone Number: 445-236-4543; Email: ODCRegistry@pennmedicine.upenn.edu

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • University of Pennsylvania Orphan Disease Center
      • Contact: Email: ODCRegistry@pennmedicine.upenn.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

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.

Description

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.)

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).	Measured by data obtained from genetic reports of enrolled patients.	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.	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.	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.	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.	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.	up to 5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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.	up to 5 years

Collaborators and Investigators

• Sponsor: University of Pennsylvania
• Collaborators: International Foundation for CDKL5 Research; Loulou Foundation; CDKL5 Alliance
• Investigators: Principal Investigator: Dan Lavery, PhD, Director, CDKL5 Program of Excellence, Orphan Disease Center

Publications and helpful links

Helpful Links

• CDKL5 Registry enrollment information

Study record dates

Study Major Dates

• Study Start (Actual): December 5, 2018
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028

Study Registration Dates

• First Submitted: February 6, 2020
• First Submitted That Met QC Criteria: July 21, 2020
• First Posted (Actual): July 27, 2020

Study Record Updates

• Last Update Posted (Estimated): March 6, 2024
• Last Update Submitted That Met QC Criteria: March 4, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Keywords: epilepsy; CDKL5; pediatric epilepsy; CDD; CDKL5 Disorder; CDKL5 Deficiency; CDKL5 Registry; CDKL5 Patient Registry; CDD Registry; CDD Patient Registry
• Other Study ID Numbers: ODC-IPR-CDD-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
• IPD Sharing Time Frame: Data will be available beginning 1 year after study enrollment target reached.
• IPD Sharing Access Criteria: Researchers studying CDKL5 Deficiency Disorder, epilepsy, and related rare diseases.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No