<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04486768</url>
  </required_header>
  <id_info>
    <org_study_id>ODC-IPR-CDD-01</org_study_id>
    <nct_id>NCT04486768</nct_id>
  </id_info>
  <brief_title>International CDKL5 Registry</brief_title>
  <official_title>Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Pennsylvania</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Loulou Foundation</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>International Foundation for CDKL5 Research</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>CDKL5 Alliance</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>University of Pennsylvania</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder,&#xD;
      there is a limited understanding of overall disease natural history and meaningful outcome&#xD;
      measures. An international patient registry aimed at collecting both patient/caregiver and&#xD;
      clinician-entered demographic, patient-reported outcome (PRO) and treatment data would&#xD;
      benefit both the scientific and patient communities. This CDD registry will follow up to 500&#xD;
      patients diagnosed with CDD over several years through both the patients/caregivers and their&#xD;
      clinicians. Initial data will be collected upon enrollment in the registry, followed by the&#xD;
      collection of additional CDD-specific data on a bi-annual/ annual basis. No procedures will&#xD;
      be performed as part of this registry. Clinician-entered data will be collected following&#xD;
      standard of care visits conducted as part of patients' ongoing clinical care. Ultimately, the&#xD;
      goal is to create a contact registry to allow patients/families to be alerted about relevant&#xD;
      clinical trials and to collect valuable information that is accessible to the patient and&#xD;
      scientific communities, thereby aiding and encouraging research in CDD.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">December 5, 2018</start_date>
  <completion_date type="Anticipated">December 31, 2028</completion_date>
  <primary_completion_date type="Anticipated">December 31, 2028</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <target_duration>5 Years</target_duration>
  <primary_outcome>
    <measure>Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).</measure>
    <time_frame>1 year</time_frame>
    <description>Measured by data obtained from genetic reports of enrolled patients.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Caregiver reported longitudinal assessments to quantify seizure frequency over time.</measure>
    <time_frame>1 year</time_frame>
    <description>Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Caregiver reported longitudinal assessment of sleep quality in patients over time.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>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.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Caregiver reported assessment of GI disturbances in patients over time and across age groups.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>Measured by rating of gastroesophageal reflux, dysphagia, constipation, bowel incontinence, bloating and distension at 1 year intervals over a period of 5 years.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Caregiver reported longitudinal assessment of supplement use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescription medications.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>Measured by percent of patients using clinician prescribed or over the counter (OTC) supplements.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Caregiver reported longitudinal assessment of diet use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescribed medications.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Caregiver reported time to attainment of developmental milestones.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>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.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Medication use in patients by age group.</measure>
    <time_frame>1 year</time_frame>
    <description>Measured by percentage of patients reporting use of selected approved prescription medications as part of CDKL5 Deficiency Disorder (CDD) management plan.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>Measured by the mean number of hospital visits leading to admissions at 1 year intervals over 5 years.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.</measure>
    <time_frame>up to 5 years</time_frame>
    <description>Measured by the percentage of patients reporting a respiratory infection at 1 year intervals over 5 years.</description>
  </secondary_outcome>
  <enrollment type="Anticipated">500</enrollment>
  <condition>CDKL5 Deficiency Disorder (CDD)</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Survey Instrument</intervention_name>
    <description>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.</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        We expect to enroll up to 500 CDD patients over a 5 year period. As CDD affects people&#xD;
        globally, we anticipate enrollment from several countries. Patients will learn about the&#xD;
        registry through the Orphan Disease Center's social media presence, disease-specific&#xD;
        foundations, other families impacted by CDD and/or physicians involved in the registry.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Person of any age, living or deceased;&#xD;
&#xD;
          -  Be a patient or the legal guardian (parent or caregiver) of a patient with a diagnosis&#xD;
             of CDD (Diagnoses must be confirmed by a clinician or genetic test);&#xD;
&#xD;
          -  Have the ability to understand and complete an informed consent process where&#xD;
             applicable per local regulations or have a legal guardian to provide consent on the&#xD;
             patient's behalf if the patient is under the legal age, per local regulations, or&#xD;
             otherwise unable to provide consent.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patient with a diagnosis of CDD who is under the legal age, per local regulations,&#xD;
             enrolling without a legal guardian;&#xD;
&#xD;
          -  Legal guardian of a patient who is 1) over the legal age, per local regulations, and&#xD;
             2) is able to read and provide consent and enter data. (We require that patients over&#xD;
             the legal age who are capable of reading and understanding and informed consent&#xD;
             provide data directly.)&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
  </eligibility>
  <overall_official>
    <last_name>Dan Lavery, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Director, CDKL5 Program of Excellence, Orphan Disease Center</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Dan Lavery, PhD</last_name>
    <phone>(215) 746-6725</phone>
    <email>ODCRegistry@pennmedicine.upenn.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>University of Pennsylvania Orphan Disease Center</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <email>ODCRegistry@pennmedicine.upenn.edu</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>March 2023</verification_date>
  <study_first_submitted>February 6, 2020</study_first_submitted>
  <study_first_submitted_qc>July 21, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 27, 2020</study_first_posted>
  <last_update_submitted>March 14, 2023</last_update_submitted>
  <last_update_submitted_qc>March 14, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">March 15, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>CDKL5</keyword>
  <keyword>CDD</keyword>
  <keyword>CDKL5 Disorder</keyword>
  <keyword>CDKL5 Deficiency</keyword>
  <keyword>pediatric epilepsy</keyword>
  <keyword>epilepsy</keyword>
  <keyword>CDKL5 Registry</keyword>
  <keyword>CDKL5 Patient Registry</keyword>
  <keyword>CDD Registry</keyword>
  <keyword>CDD Patient Registry</keyword>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).</ipd_description>
    <ipd_info_type>Study Protocol</ipd_info_type>
    <ipd_info_type>Informed Consent Form (ICF)</ipd_info_type>
    <ipd_time_frame>Data will be available beginning 1 year after study enrollment target reached.</ipd_time_frame>
    <ipd_access_criteria>Researchers studying CDKL5 Deficiency Disorder, epilepsy, and related rare diseases.</ipd_access_criteria>
    <ipd_url>http://www.cdkl5registry.org</ipd_url>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04486768
org study id: ODC-IPR-CDD-01
nct id: NCT04486768
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
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.
observational model: Family-Based
time perspective: Prospective
measure: Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
time frame: 1 year
description: Measured by data obtained from genetic reports of enrolled patients.
measure: Caregiver reported longitudinal assessments to quantify seizure frequency over time.
time frame: 1 year
description: Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
measure: Caregiver reported longitudinal assessment of sleep quality in patients over time.
time frame: up to 5 years
description: 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.
measure: Caregiver reported assessment of GI disturbances in patients over time and across age groups.
time frame: up to 5 years
description: Measured by rating of gastroesophageal reflux, dysphagia, constipation, bowel incontinence, bloating and distension at 1 year intervals over a period of 5 years.
measure: 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
description: Measured by percent of patients using clinician prescribed or over the counter (OTC) supplements.
measure: 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
description: Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
measure: Caregiver reported time to attainment of developmental milestones.
time frame: up to 5 years
description: 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.
measure: Medication use in patients by age group.
time frame: 1 year
description: Measured by percentage of patients reporting use of selected approved prescription medications as part of CDKL5 Deficiency Disorder (CDD) management plan.
measure: Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.
time frame: up to 5 years
description: Measured by the mean number of hospital visits leading to admissions at 1 year intervals over 5 years.
measure: Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.
time frame: up to 5 years
description: Measured by the percentage of patients reporting a respiratory infection at 1 year intervals over 5 years.
intervention type: Other
intervention name: Survey Instrument
description: 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.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
last name: Dan Lavery, PhD
role: Principal Investigator
affiliation: Director, CDKL5 Program of Excellence, Orphan Disease Center
last name: Dan Lavery, PhD
phone: (215) 746-6725
email: ODCRegistry@pennmedicine.upenn.edu
facility: 
status: Recruiting
contact: 
country: United States
responsible party type: Sponsor
sharing ipd: Yes
ipd description: Data will be made available by request to the Orphan Disease Center Data Access Board (DAB).
ipd info type: Study Protocol
ipd info type: Informed Consent Form (ICF)
ipd time frame: Data will be available beginning 1 year after study enrollment target reached.
ipd access criteria: Researchers studying CDKL5 Deficiency Disorder, epilepsy, and related rare diseases.
ipd url: http://www.cdkl5registry.org