Clinical trial NCT04486768: International CDKL5 Registry
Official title: Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
Collaborators: name: Loulou Foundation
name: International Foundation for CDKL5 Research
name: CDKL5 Alliance
First posted: 2020-07-27
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
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.

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.


Eligibility 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.)

Primary outcomes:
measure: Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
timeFrame: 1 year
measure: Caregiver reported longitudinal assessments to quantify seizure frequency over time.
timeFrame: 1 year
measure: Caregiver reported longitudinal assessment of sleep quality in patients over time.
timeFrame: up to 5 years
measure: Caregiver reported assessment of GI disturbances in patients over time and across age groups.
timeFrame: up to 5 years
measure: Caregiver reported longitudinal assessment of supplement use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescription medications.
timeFrame: up to 5 years
measure: Caregiver reported longitudinal assessment of diet use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescribed medications.
timeFrame: up to 5 years
Secondary outcomes:
measure: Caregiver reported time to attainment of developmental milestones.
timeFrame: up to 5 years
measure: Medication use in patients by age group.
timeFrame: 1 year
measure: Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.
timeFrame: up to 5 years
measure: Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.
timeFrame: up to 5 years
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania Orphan Disease Center
state: Pennsylvania
Study officials:
affiliation: Director, CDKL5 Program of Excellence, Orphan Disease Center
name: Dan Lavery, PhD
role: PRINCIPAL_INVESTIGATOR
References: