International CDKL5 Registry

NCT04486768 | Suspended DMC

• 1 other identifier: ODC-IPR-CDD-01
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief 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. 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)

Keywords

CDKL5; CDD; CDKL5 Disorder; CDKL5 Deficiency; pediatric epilepsy; epilepsy; CDKL5 Registry; CDKL5 Patient Registry; CDD Registry; CDD Patient Registry

Outcome Measures

Primary Outcomes (6)

• 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 Outcomes (4)

• Caregiver reported time to attainment of developmental milestones.

  up to 5 years

• Medication use in patients by age group.

  1 year

• Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.

  up to 5 years

• Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.

  up to 5 years

Interventions

Survey Instrument OTHER

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.

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.)

Sponsors & Collaborators

• University of Pennsylvania: lead
• Loulou Foundation: collaborator
• CDKL5 Alliance: collaborator
• International Foundation for CDKL5 Research: collaborator

Study Sites (1)

University of Pennsylvania Orphan Disease Center

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

CDKL5 deficiency disorder; Epilepsies, Myoclonic; Epilepsy

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Dan Lavery, PhD

  Director, CDKL5 Program of Excellence, Orphan Disease Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 6, 2020
• First Posted: July 27, 2020
• Study Start: December 5, 2018
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 21, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Data will be available beginning 1 year after study enrollment target reached.
• Access Criteria: Researchers studying CDKL5 Deficiency Disorder, epilepsy, and related rare diseases.

Locations

US (1)