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/NCT06004349</url>
    </required_header>
    <id_info>
      <org_study_id>22-00038</org_study_id>
      <nct_id>NCT06004349</nct_id>
    </id_info>
    <brief_title>Autoimmune and Autoinflammatory Genetics Study</brief_title>
    <official_title>Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>NYU Langone Health</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>NYU Langone Health</source>
    <oversight_info>
      <has_dmc>No</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>
        This is an exploratory natural history protocol that will enroll patients with known genetic&#xD;
        diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the&#xD;
        goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or&#xD;
        buccal samples may be collected for genetic analysis, blood samples will be obtained for&#xD;
        immunologic and other functional studies, and a small number of subjects may undergo skin&#xD;
        biopsy.&#xD;
      </textblock>
    </brief_summary>
    <overall_status>Recruiting</overall_status>
    <start_date type="Actual">April 15, 2022</start_date>
    <completion_date type="Anticipated">April 5, 2032</completion_date>
    <primary_completion_date type="Anticipated">April 5, 2032</primary_completion_date>
    <study_type>Observational</study_type>
    <has_expanded_access>No</has_expanded_access>
    <study_design_info>
      <observational_model>Cohort</observational_model>
      <time_perspective>Prospective</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease</measure>
      <time_frame>Study End (Up to Year 5)</time_frame>
    </primary_outcome>
    <primary_outcome>
      <measure>Number of newly discovered structural genomic variants that cause human inflammatory disease</measure>
      <time_frame>Study End (Up to Year 5)</time_frame>
    </primary_outcome>
    <primary_outcome>
      <measure>Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease</measure>
      <time_frame>Study End (Up to Year 5)</time_frame>
    </primary_outcome>
    <primary_outcome>
      <measure>Number of newly discovered somatic mutations that give rise to human inflammatory disease</measure>
      <time_frame>Study End (Up to Year 5)</time_frame>
    </primary_outcome>
    <number_of_groups>3</number_of_groups>
    <enrollment type="Anticipated">1500</enrollment>
    <condition>Autoinflammatory Disease</condition>
    <arm_group>
      <arm_group_label>Participants with known or suspected autoinflammatory diseases</arm_group_label>
    </arm_group>
    <arm_group>
      <arm_group_label>Family members of participants with known or suspected autoinflammatory diseases</arm_group_label>
    </arm_group>
    <arm_group>
      <arm_group_label>Healthy control</arm_group_label>
    </arm_group>
    <biospec_retention>Samples With DNA</biospec_retention>
    <biospec_descr>
      <textblock>
        At the initial visit, or after first enrollment for mail in samples, subjects may be asked to&#xD;
        provide a blood sample in an EDTA-anticoagulated lavender-top tube, containing approximately&#xD;
        5 ml (1-2 teaspoons) of peripheral blood, for DNA extraction. The maximum amount drawn at any&#xD;
        visit for adults will be 9 teaspoons. Pediatric volumes will be used for children (maximum of&#xD;
        2ml/kg). In cases where there is severe anemia or psychological factors preclude a blood&#xD;
        draw, saliva or buccal brushings may be obtained.&#xD;
  &#xD;
        A small number of affected subjects over the age of 5 may also be asked to undergo a research&#xD;
        skin biopsy under a separate procedural consent.&#xD;
      </textblock>
    </biospec_descr>
    <eligibility>
      <study_pop>
        <textblock>
          -  There are three populations that will be included in this study: subjects with known&#xD;
               or suspected autoinflammatory diseases, family members of subjects with known or&#xD;
               suspected autoinflammatory diseases, and healthy controls.&#xD;
  &#xD;
            -  Subjects will be recruited regardless of gender, demographic group, or general health&#xD;
               status.&#xD;
  &#xD;
            -  Subjects must be more than one month of age at time of enrollment (probands and family&#xD;
               members) or over 5 years for healthy controls.&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
          In order to be eligible to participate in this study as a subject with known or suspected&#xD;
          autoinflammatory disease, an individual must meet all of the following criteria:&#xD;
  &#xD;
            -  Stated willingness to participate in study procedures (which at the very least&#xD;
               includes providing a mail-in blood or saliva sample for genetic analysis);&#xD;
  &#xD;
            -  Regardless of gender, at least one month of age;&#xD;
  &#xD;
            -  A medical history that, in the expert opinion of the PI and study team, is consistent&#xD;
               with the possibility of autoinflammatory disease; and&#xD;
  &#xD;
            -  Ability of the subject, parents (in the case of children), or Legally Authorized&#xD;
               Representative to understand and the willingness to sign a written informed consent&#xD;
               document.&#xD;
  &#xD;
          In order to be eligible to participate in this study as a family member of a subject with&#xD;
          known or suspected autoinflammatory disease, an individual must meet all of the following&#xD;
          criteria:&#xD;
  &#xD;
            -  Stated willingness to participate in study procedures (which at the very least&#xD;
               includes providing a mail-in sample for genetic analysis);&#xD;
  &#xD;
            -  Regardless of gender, at least one month of age;&#xD;
  &#xD;
            -  Relationship, either by blood or marriage, to an individual enrolled or about to be&#xD;
               enrolled in the study with known or suspected autoinflammatory disease;&#xD;
  &#xD;
            -  Likelihood, in the expert opinion of the PI and study team, that analysis of a sample&#xD;
               from the individual would advance genetic or functional analysis of the affected&#xD;
               relative's possible autoinflammatory condition; and&#xD;
  &#xD;
            -  Ability of the subject, parents (in the case of children), to understand and the&#xD;
               willingness to sign a written informed consent document.&#xD;
  &#xD;
          In order to be eligible to participate in this study as a healthy volunteer, an individual&#xD;
          must meet all of the following criteria:&#xD;
  &#xD;
            -  Stated willingness to participate in study procedures for healthy volunteers;&#xD;
  &#xD;
            -  Regardless of gender, at least five years old, and not pregnant (by history of a&#xD;
               missed menstrual period);&#xD;
  &#xD;
            -  Likelihood, in the expert opinion of the PI that a sample from the individual would&#xD;
               advance the functional analysis of an autoinflammatory condition under study; and&#xD;
  &#xD;
            -  Ability of the subject to understand and the willingness to sign a written informed&#xD;
               consent document by a capacity assessment provided by the PI and study team.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
          For any of the three categories of subjects, an individual will be excluded from&#xD;
          participation in this study for the following reasons:&#xD;
  &#xD;
          Probands: an individual will not be enrolled as a proband if the study team has a low&#xD;
          suspicion of having an autoinflammatory disease or a genetic cause for an autoinflammatory.&#xD;
  &#xD;
          Family Members: an individual will not be enrolled as a family member if the study team&#xD;
          believes they may have an autoinflammatory disease, in which case, they will be enrolled as&#xD;
          a proband.&#xD;
  &#xD;
          Healthy controls: an individual will not be enrolled as a healthy control if they have an&#xD;
          autoinflammatory disease, or any condition that may mimic an autoinflammatory disease, such&#xD;
          as hematologic malignancy, rheumatologic disease.&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>1 Month</minimum_age>
      <maximum_age>N/A</maximum_age>
      <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
    </eligibility>
    <overall_official>
      <last_name>David Beck, MD, PhD</last_name>
      <role>Principal Investigator</role>
      <affiliation>NYU Langone Health</affiliation>
    </overall_official>
    <overall_contact>
      <last_name>David Beck, MD, PhD</last_name>
      <phone>646-501-7400</phone>
      <email>David.beck@nyulangone.org</email>
    </overall_contact>
    <overall_contact_backup>
      <last_name>Mei-Kay Wong, MS, MPH, CGC, CPH</last_name>
      <phone>212-263-0350</phone>
      <email>Margaret.wong2@nyulangone.org</email>
    </overall_contact_backup>
    <location>
      <facility>
        <name>NYC H+H/Bellevue</name>
        <address>
          <city>New York</city>
          <state>New York</state>
          <zip>10016</zip>
          <country>United States</country>
        </address>
      </facility>
      <status>Recruiting</status>
    </location>
    <location>
      <facility>
        <name>NYU Langone Health</name>
        <address>
          <city>New York</city>
          <state>New York</state>
          <zip>10016</zip>
          <country>United States</country>
        </address>
      </facility>
      <status>Recruiting</status>
    </location>
    <location_countries>
      <country>United States</country>
    </location_countries>
    <reference>
      <citation>Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836.</citation>
      <PMID>36692560</PMID>
    </reference>
    <reference>
      <citation>Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985.</citation>
      <PMID>35793467</PMID>
    </reference>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 16, 2023</study_first_submitted>
    <study_first_submitted_qc>August 21, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 22, 2023</study_first_posted>
    <last_update_submitted>August 23, 2023</last_update_submitted>
    <last_update_submitted_qc>August 23, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 25, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <patient_data>
      <sharing_ipd>Yes</sharing_ipd>
      <ipd_description>The de-identified participant data from the final research dataset used in the published manuscript will be shared upon reasonable request beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research provided the investigator who proposes to use the data executes a data use agreement with NYU Langone Health. Requests may be directed to: David.beck@nyulangone.org. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.</ipd_description>
      <ipd_info_type>Study Protocol</ipd_info_type>
      <ipd_info_type>Statistical Analysis Plan (SAP)</ipd_info_type>
      <ipd_time_frame>Beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research.</ipd_time_frame>
      <ipd_access_criteria>The investigator who proposed to use the data will be granted access upon reasonable request. Requests should be directed to David.beck@nyulangone.org. To gain access, data requestors will need to sign a data access agreement.</ipd_access_criteria>
    </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/NCT06004349
  org study id: 22-00038
  nct id: NCT06004349
  lead sponsor: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  This is an exploratory natural history protocol that will enroll patients with known genetic
        diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the
        goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or
        buccal samples may be collected for genetic analysis, blood samples will be obtained for
        immunologic and other functional studies, and a small number of subjects may undergo skin
        biopsy.
  observational model: Cohort
  time perspective: Prospective
  measure: Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease
  time frame: Study End (Up to Year 5)
  measure: Number of newly discovered structural genomic variants that cause human inflammatory disease
  time frame: Study End (Up to Year 5)
  measure: Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease
  time frame: Study End (Up to Year 5)
  measure: Number of newly discovered somatic mutations that give rise to human inflammatory disease
  time frame: Study End (Up to Year 5)
  arm group label: Participants with known or suspected autoinflammatory diseases
  arm group label: Family members of participants with known or suspected autoinflammatory diseases
  arm group label: Healthy control
  At the initial visit, or after first enrollment for mail in samples, subjects may be asked to
        provide a blood sample in an EDTA-anticoagulated lavender-top tube, containing approximately
        5 ml (1-2 teaspoons) of peripheral blood, for DNA extraction. The maximum amount drawn at any
        visit for adults will be 9 teaspoons. Pediatric volumes will be used for children (maximum of
        2ml/kg). In cases where there is severe anemia or psychological factors preclude a blood
        draw, saliva or buccal brushings may be obtained.
  
        A small number of affected subjects over the age of 5 may also be asked to undergo a research
        skin biopsy under a separate procedural consent.
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 1 Month
  maximum age: N/A
  healthy volunteers: Accepts Healthy Volunteers
  last name: David Beck, MD, PhD
  role: Principal Investigator
  affiliation: NYU Langone Health
  last name: David Beck, MD, PhD
  phone: 646-501-7400
  email: David.beck@nyulangone.org
  last name: Mei-Kay Wong, MS, MPH, CGC, CPH
  phone: 212-263-0350
  email: Margaret.wong2@nyulangone.org
  facility: 
  status: Recruiting
  facility: 
  status: Recruiting
  country: United States
  citation: Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836.
  PMID: 36692560
  citation: Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985.
  PMID: 35793467
  responsible party type: Sponsor
  sharing ipd: Yes
  ipd description: The de-identified participant data from the final research dataset used in the published manuscript will be shared upon reasonable request beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research provided the investigator who proposes to use the data executes a data use agreement with NYU Langone Health. Requests may be directed to: David.beck@nyulangone.org. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
  ipd info type: Study Protocol
  ipd info type: Statistical Analysis Plan (SAP)
  ipd time frame: Beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research.
  ipd access criteria: The investigator who proposed to use the data will be granted access upon reasonable request. Requests should be directed to David.beck@nyulangone.org. To gain access, data requestors will need to sign a data access agreement.