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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
Sponsor:
Collaborators:
Loulou Foundation
International Foundation for CDKL5 Research
CDKL5 Alliance
Information provided by (Responsible Party):
University of Pennsylvania

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.

Condition or disease Intervention/treatment
CDKL5 Deficiency Disorder (CDD) Other: Survey Instrument

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Family-Based
Time Perspective: Prospective
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



Intervention Details:
  • 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.


Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.


Secondary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.
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.)

Information from the National Library of Medicine

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


Contacts
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Contact: Dan Lavery, PhD (215) 746-6725 ODCRegistry@pennmedicine.upenn.edu

Locations
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United States, Pennsylvania
University of Pennsylvania Orphan Disease Center Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact       ODCRegistry@pennmedicine.upenn.edu   
Sponsors and Collaborators
University of Pennsylvania
Loulou Foundation
International Foundation for CDKL5 Research
CDKL5 Alliance
Investigators
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Principal Investigator: Dan Lavery, PhD Director, CDKL5 Program of Excellence, Orphan Disease Center
Additional Information:
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Responsible Party: University of Pennsylvania
ClinicalTrials.gov Identifier: NCT04486768    
Other Study ID Numbers: ODC-IPR-CDD-01
First Posted: July 27, 2020    Key Record Dates
Last Update Posted: September 28, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
Supporting Materials: Study Protocol
Informed Consent Form (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.
URL: http://www.cdkl5registry.org

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of Pennsylvania:
CDKL5
CDD
CDKL5 Disorder
CDKL5 Deficiency
pediatric epilepsy
epilepsy
CDKL5 Registry
CDKL5 Patient Registry
CDD Registry
CDD Patient Registry