International CDKL5 Registry
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|ClinicalTrials.gov Identifier: NCT04486768|
Recruitment Status : Recruiting
First Posted : July 27, 2020
Last Update Posted : September 28, 2021
|Condition or disease||Intervention/treatment|
|CDKL5 Deficiency Disorder (CDD)||Other: Survey Instrument|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||500 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry|
|Actual Study Start Date :||November 5, 2018|
|Estimated Primary Completion Date :||December 31, 2023|
|Estimated Study Completion Date :||December 31, 2023|
- Other: Survey Instrument
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 connect to the internet.
- Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD). [ Time Frame: 1 year ]Measured by data obtained from genetic reports of enrolled patients.
- Caregiver reported longitudinal assessments to quantify seizure frequency over time. [ Time Frame: 1 year ]Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
- Caregiver reported longitudinal assessment of sleep quality in patients over time. [ Time Frame: 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.
- Caregiver reported assessment of GI disturbances in patients over time and across age groups. [ Time Frame: 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. [ Time Frame: 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. [ Time Frame: up to 5 years ]Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
- Caregiver reported time to attainment of developmental milestones. [ Time Frame: 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.
- Medication use in patients by age group. [ Time Frame: 1 year ]Measured by percentage of patients reporting use of selected approved prescription medications as part of CDKL5 Deficiency Disorder (CDD) management plan.
- Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients. [ Time Frame: 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. [ Time Frame: up to 5 years ]Measured by the percentage of patients reporting a respiratory infection at 1 year intervals over 5 years.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04486768
|Contact: Dan Lavery, PhD||(215) 746-6725||ODCRegistry@pennmedicine.upenn.edu|
|United States, Pennsylvania|
|University of Pennsylvania Orphan Disease Center||Recruiting|
|Philadelphia, Pennsylvania, United States, 19104|
|Principal Investigator:||Dan Lavery, PhD||Director, CDKL5 Program of Excellence, Orphan Disease Center|