International CDKL5 Registry

Recruiting

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.

Recruitment & Eligibility

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 Outcome Measures

Name	Time	Method
Caregiver reported longitudinal assessments to quantify seizure frequency over time.	1 year	Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
Caregiver reported assessment of GI disturbances in patients over time and across age groups.	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.	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.	up to 5 years	Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).	1 year	Measured by data obtained from genetic reports of enrolled patients.
Caregiver reported longitudinal assessment of sleep quality in patients over time.	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.

Secondary Outcome Measures

Name	Time	Method
Medication use in patients by age group.	1 year	Measured by percentage of patients reporting use of selected approved prescription medications as part of CDKL5 Deficiency Disorder (CDD) management plan.
Caregiver reported time to attainment of developmental milestones.	up to 5 years	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.
Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.	up to 5 years	Measured by the mean number of hospital visits leading to admissions at 1 year intervals over 5 years.
Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.	up to 5 years	Measured by the percentage of patients reporting a respiratory infection at 1 year intervals over 5 years.

Locations (1): University of Pennsylvania Orphan Disease Center
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Philadelphia, Pennsylvania, United States