xml: <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/NCT05990179</url>
    </required_header>
    <id_info>
      <org_study_id>AAAS9161</org_study_id>
      <nct_id>NCT05990179</nct_id>
    </id_info>
    <brief_title>Genomic Uniformed-Screening Against Rare Disease In All Newborns</brief_title>
    <acronym>GUARDIAN</acronym>
    <official_title>Genomic Uniformed-Screening Against Rare Disease In All Newborns</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Columbia University</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
      <collaborator>
        <agency>Illumina, Inc.</agency>
        <agency_class>Industry</agency_class>
      </collaborator>
      <collaborator>
        <agency>GeneDx</agency>
        <agency_class>Other</agency_class>
      </collaborator>
      <collaborator>
        <agency>New York State Department of Health</agency>
        <agency_class>Other</agency_class>
      </collaborator>
    </sponsors>
    <source>Columbia University</source>
    <oversight_info>
      <is_fda_regulated_drug>No</is_fda_regulated_drug>
      <is_fda_regulated_device>No</is_fda_regulated_device>
    </oversight_info>
    <brief_summary>
      <textblock>
        The goal of this study is to learn how genomic sequencing technology can be used to&#xD;
        effectively expand the conditions screened on newborn screening. Newborn screening ensures&#xD;
        equity and allows all babies to have the same chance at the healthiest life. Families will be&#xD;
        invited to have their newborn baby screened for additional conditions beyond what all babies&#xD;
        are screened for as part of the newborn screening public health program. Families can choose&#xD;
        to be part of the study or choose not to be part of the study and just have the routine&#xD;
        newborn screening test. Families will also be able to choose to learn about their baby's risk&#xD;
        for conditions that have effective treatments available but are not on the routine newborn&#xD;
        screening panel or also learn about conditions for which there is not currently FDA approved&#xD;
        medications but for which medications are under development or for which early intervention&#xD;
        services or treatment of seizures may improve the child's outcome. Families will be invited&#xD;
        to the study shortly after the baby is born and will learn the decision not to participate,&#xD;
        and we will interview a subset of parents who agree to be interviewed. Newborns who screen&#xD;
        positive will be referred to appropriate providers for care and will be followed through&#xD;
        review of electronic medical records and parental follow up via phone, text, postal mail or&#xD;
        email.&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        Newborn screening (NBS) is the process of screening all newborns for select conditions&#xD;
        shortly after birth. This process reduces morbidity and mortality by the detection of&#xD;
        medically actionable conditions in pre-symptomatic newborns. Approximately 1 in every 180&#xD;
        newborns is diagnosed with a condition through NBS. NBS is a public health service; every&#xD;
        infant regardless of health insurance or ability to pay is tested. NBS ensures equity and&#xD;
        allows all babies to have the same chance at the healthiest life. Effective NBS requires&#xD;
        coordination and collaboration from multiple stakeholders - the parents, the hospital of&#xD;
        birth, state department of health lab, the pediatrician, and the specialty referral center.&#xD;
  &#xD;
        Conditions included on the NBS must fulfill several criteria: 1) significant clinical benefit&#xD;
        for the newborn early in life including treatment administered within the first few years of&#xD;
        life, 2) readiness of public health departments to effectively screen for the condition, and&#xD;
        3) feasibility of successful implementation of population screening. In the United States,&#xD;
        screening of newborns is under the purview of state public health departments. Each state&#xD;
        decides which disorders to screen, and expansions to each state's panel of screened&#xD;
        conditions. The federal government also plays a role through the Secretary of Health and&#xD;
        Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children&#xD;
        (ACHDNC). With rapid improvements in screening technology, diagnostic testing, and&#xD;
        treatments, conditions not previously screened through NBS are being considered. Expanding&#xD;
        NBS through genome-wide sequencing (GS) will be the most flexible and cost-effective way to&#xD;
        add to what is currently in use.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Recruiting</overall_status>
    <start_date type="Actual">September 6, 2022</start_date>
    <completion_date type="Anticipated">September 2027</completion_date>
    <primary_completion_date type="Anticipated">September 2027</primary_completion_date>
    <phase>N/A</phase>
    <study_type>Interventional</study_type>
    <has_expanded_access>No</has_expanded_access>
    <study_design_info>
      <allocation>N/A</allocation>
      <intervention_model>Single Group Assignment</intervention_model>
      <primary_purpose>Screening</primary_purpose>
      <masking>None (Open Label)</masking>
    </study_design_info>
    <primary_outcome>
      <measure>Enrollment Rate (percentage)</measure>
      <time_frame>From study launch to end of enrollment (up to 5 years)</time_frame>
      <description>Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant.</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Successful Sequencing Rate (percentage)</measure>
      <time_frame>Up to 6 months after the end of enrollment</time_frame>
      <description>Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns.</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Screen Positive Rate (percentage)</measure>
      <time_frame>Up to 6 months after the end of enrollment</time_frame>
      <description>Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing.</description>
    </primary_outcome>
    <primary_outcome>
      <measure>True Positive Rate (percentage)</measure>
      <time_frame>Up to 6 months after the end of enrollment</time_frame>
      <description>True positive rate will be defined as: number of confirmed diagnosis / number of screen positive.</description>
    </primary_outcome>
    <secondary_outcome>
      <measure>Score on Decision Regret Scale</measure>
      <time_frame>Up to 6 months after the end of enrollment</time_frame>
      <description>The Decision Regret Scale measures distress or remorse after a health care decision. This 5-items scale ranges from 0 (no regrets - best outcome) to 100 (highest regret - worst outcome). Scores above 1 and below 25 are considered as an indication of mild regret. Scores above 25 are considered as an indication of moderate to severe regret.</description>
    </secondary_outcome>
    <number_of_arms>1</number_of_arms>
    <enrollment type="Anticipated">100000</enrollment>
    <condition>Early Onset Genetic Conditions With Near Complete Penetrance</condition>
    <arm_group>
      <arm_group_label>Enrolled in the study</arm_group_label>
      <arm_group_type>Experimental</arm_group_type>
      <description>All newborns enrolled in the study will be evaluated.</description>
    </arm_group>
    <intervention>
      <intervention_type>Other</intervention_type>
      <intervention_name>Genome sequencing-based newborn screening</intervention_name>
      <description>Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions.</description>
      <arm_group_label>Enrolled in the study</arm_group_label>
    </intervention>
    <eligibility>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            -  Newborns admitted to the well-baby nurseries from the recruiting hospitals&#xD;
  &#xD;
            -  Newborns born after 33 weeks of gestation&#xD;
  &#xD;
            -  Newborns whose parents are English, Mandarin, or Spanish speaking&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>1 Day</minimum_age>
      <maximum_age>1 Month</maximum_age>
      <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
    </eligibility>
    <overall_official>
      <last_name>Wendy K. Chung, MD, PhD</last_name>
      <role>Principal Investigator</role>
      <affiliation>Boston Children's Hospital</affiliation>
    </overall_official>
    <overall_contact>
      <last_name>Rebecca R. Hernann</last_name>
      <phone>+1 718-514-4947</phone>
      <email>rh2813@cumc.columbia.edu</email>
    </overall_contact>
    <location>
      <facility>
        <name>Columbia University Irving Medical Center/NYP</name>
        <address>
          <city>New York</city>
          <state>New York</state>
          <zip>10032</zip>
          <country>United States</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Rebecca Hernann</last_name>
        <phone>718-514-4947</phone>
        <email>rh2813@cumc.columbia.edu</email>
      </contact>
      <investigator>
        <last_name>Rudolph Leibel, MD</last_name>
        <role>Principal Investigator</role>
      </investigator>
    </location>
    <location_countries>
      <country>United States</country>
    </location_countries>
    <link>
      <url>https://guardian-study.org/</url>
      <description>GUARDIAN Study Website</description>
    </link>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 4, 2023</study_first_submitted>
    <study_first_submitted_qc>August 10, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 14, 2023</study_first_posted>
    <last_update_submitted>August 10, 2023</last_update_submitted>
    <last_update_submitted_qc>August 10, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 14, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Principal Investigator</responsible_party_type>
      <investigator_affiliation>Columbia University</investigator_affiliation>
      <investigator_full_name>Rudolph L. Leibel</investigator_full_name>
      <investigator_title>Professor of Pediatrics and Medicine</investigator_title>
    </responsible_party>
    <keyword>Newborn screening</keyword>
    <keyword>Genome sequencing</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Rare Diseases</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>No</sharing_ipd>
      <ipd_description>IPD will not be shared with other researchers.</ipd_description>
    </patient_data>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT05990179
  org study id: AAAS9161
  nct id: NCT05990179
  lead sponsor: 
  collaborator: 
  collaborator: 
  collaborator: 
  is fda regulated drug: No
  is fda regulated device: No
  The goal of this study is to learn how genomic sequencing technology can be used to
        effectively expand the conditions screened on newborn screening. Newborn screening ensures
        equity and allows all babies to have the same chance at the healthiest life. Families will be
        invited to have their newborn baby screened for additional conditions beyond what all babies
        are screened for as part of the newborn screening public health program. Families can choose
        to be part of the study or choose not to be part of the study and just have the routine
        newborn screening test. Families will also be able to choose to learn about their baby's risk
        for conditions that have effective treatments available but are not on the routine newborn
        screening panel or also learn about conditions for which there is not currently FDA approved
        medications but for which medications are under development or for which early intervention
        services or treatment of seizures may improve the child's outcome. Families will be invited
        to the study shortly after the baby is born and will learn the decision not to participate,
        and we will interview a subset of parents who agree to be interviewed. Newborns who screen
        positive will be referred to appropriate providers for care and will be followed through
        review of electronic medical records and parental follow up via phone, text, postal mail or
        email.
  Newborn screening (NBS) is the process of screening all newborns for select conditions
        shortly after birth. This process reduces morbidity and mortality by the detection of
        medically actionable conditions in pre-symptomatic newborns. Approximately 1 in every 180
        newborns is diagnosed with a condition through NBS. NBS is a public health service; every
        infant regardless of health insurance or ability to pay is tested. NBS ensures equity and
        allows all babies to have the same chance at the healthiest life. Effective NBS requires
        coordination and collaboration from multiple stakeholders - the parents, the hospital of
        birth, state department of health lab, the pediatrician, and the specialty referral center.
  
        Conditions included on the NBS must fulfill several criteria: 1) significant clinical benefit
        for the newborn early in life including treatment administered within the first few years of
        life, 2) readiness of public health departments to effectively screen for the condition, and
        3) feasibility of successful implementation of population screening. In the United States,
        screening of newborns is under the purview of state public health departments. Each state
        decides which disorders to screen, and expansions to each state's panel of screened
        conditions. The federal government also plays a role through the Secretary of Health and
        Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children
        (ACHDNC). With rapid improvements in screening technology, diagnostic testing, and
        treatments, conditions not previously screened through NBS are being considered. Expanding
        NBS through genome-wide sequencing (GS) will be the most flexible and cost-effective way to
        add to what is currently in use.
  allocation: N/A
  intervention model: Single Group Assignment
  primary purpose: Screening
  masking: None (Open Label)
  measure: Enrollment Rate (percentage)
  time frame: From study launch to end of enrollment (up to 5 years)
  description: Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant.
  measure: Successful Sequencing Rate (percentage)
  time frame: Up to 6 months after the end of enrollment
  description: Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns.
  measure: Screen Positive Rate (percentage)
  time frame: Up to 6 months after the end of enrollment
  description: Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing.
  measure: True Positive Rate (percentage)
  time frame: Up to 6 months after the end of enrollment
  description: True positive rate will be defined as: number of confirmed diagnosis / number of screen positive.
  measure: Score on Decision Regret Scale
  time frame: Up to 6 months after the end of enrollment
  description: The Decision Regret Scale measures distress or remorse after a health care decision. This 5-items scale ranges from 0 (no regrets - best outcome) to 100 (highest regret - worst outcome). Scores above 1 and below 25 are considered as an indication of mild regret. Scores above 25 are considered as an indication of moderate to severe regret.
  arm group label: Enrolled in the study
  arm group type: Experimental
  description: All newborns enrolled in the study will be evaluated.
  intervention type: Other
  intervention name: Genome sequencing-based newborn screening
  description: Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions.
  arm group label: Enrolled in the study
  criteria: 
  gender: All
  minimum age: 1 Day
  maximum age: 1 Month
  healthy volunteers: Accepts Healthy Volunteers
  last name: Wendy K. Chung, MD, PhD
  role: Principal Investigator
  affiliation: Boston Children's Hospital
  last name: Rebecca R. Hernann
  phone: +1 718-514-4947
  email: rh2813@cumc.columbia.edu
  facility: 
  status: Recruiting
  contact: 
  investigator: 
  country: United States
  url: https://guardian-study.org/
  description: GUARDIAN Study Website
  responsible party type: Principal Investigator
  investigator affiliation: Columbia University
  investigator full name: Rudolph L. Leibel
  investigator title: Professor of Pediatrics and Medicine
  mesh term: Rare Diseases
  sharing ipd: No
  ipd description: IPD will not be shared with other researchers.