<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/NCT03836300</url>
  </required_header>
  <id_info>
    <org_study_id>18-2079</org_study_id>
    <nct_id>NCT03836300</nct_id>
  </id_info>
  <brief_title>Parent-Infant Inter(X)Action Intervention (PIXI)</brief_title>
  <official_title>Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>RTI International</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>University of North Carolina, Chapel Hill</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>RTI International</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>
      The objective is to develop and test, through an iterative process, an intervention to&#xD;
      address and support the development of infants with a confirmed diagnosis of neurogenetic&#xD;
      disorders that leave individuals at risk for developmental delays or intellectual and&#xD;
      developmental disabilities. The proposed project will capitalize and expand upon existing&#xD;
      empirically based interventions designed to improve outcomes for infants with suspected&#xD;
      developmental delays.&#xD;
&#xD;
      Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g.,&#xD;
      fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams,&#xD;
      Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of&#xD;
      life and their parents/caregivers.&#xD;
&#xD;
      The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive&#xD;
      program inclusive of parent education about early infant development and the neurogenetic&#xD;
      disorder for which they were diagnosed, direct parent coaching around parent-child&#xD;
      interaction, and family/parent well-being support. The protocol includes repeated&#xD;
      comprehensive assessments of family and child functioning, along with an examination of&#xD;
      feasibility and acceptability of the program.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The primary goal of the proposed project is to develop and test, through an iterative&#xD;
      process, an intervention to address and support the development of infants with a rare&#xD;
      neurogenetic condition (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid,&#xD;
      Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular&#xD;
      dystrophy) identified prior to emergence of symptoms. PiXI aims to utilize the foundational&#xD;
      knowledge available around the development of and early intervention for at-risk infants to&#xD;
      both understand the needs of and provide intervention services for families of infants&#xD;
      diagnosed pre-symptomatically with rare neurogenetic disorders.&#xD;
&#xD;
      The investigators aim to 1) develop PIXI with a pilot sample of families, 2) test the&#xD;
      preliminary effects of PIXI on infant and parent outcomes&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Enrolling by invitation</overall_status>
  <start_date type="Actual">November 30, 2018</start_date>
  <completion_date type="Anticipated">June 30, 2025</completion_date>
  <primary_completion_date type="Anticipated">December 31, 2024</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>
    <intervention_model_description>The intervention, called Parent-infant Interaction Intervention (PIXI) is a comprehensive intervention provided across the first year of life for parents/caregivers of infants identified with a rare neurogenetic disorder. It includes psychoeducation around the disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.</intervention_model_description>
    <primary_purpose>Treatment</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Social Validity and Acceptability</measure>
    <time_frame>Completion of Phase 1 (approximately six months of age)</time_frame>
    <description>A social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Social Validity and Acceptability</measure>
    <time_frame>Completion of Phase 2 (approximately twelve months of age)</time_frame>
    <description>A social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention. Qualitative interviewing will be also be conducted to examine parent perceptions of feasibility and acceptability.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Fidelity</measure>
    <time_frame>Completion of Phase 1 (approximately six months of age)</time_frame>
    <description>Overall intervention fidelity will be measured by determining if the following goals were achieved:&#xD;
Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Fidelity</measure>
    <time_frame>Completion of Phase 2 (approximately twelve months of age)</time_frame>
    <description>Overall intervention fidelity will be measured by determining if the following goals were achieved:&#xD;
Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Parent Implementation and Engagement</measure>
    <time_frame>Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)</time_frame>
    <description>Internal parent implementation and engagement forms will be used to measure parent participation across both intervention phases. These components include parent readiness for the session, attention to materials, participation in topic discussion, appropriateness of intervention activity practice, and general presentation with their child.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Early Developmental Outcomes</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>Descriptive statistics around early learning, motor, communication skills, interpersonal, and adaptive skills in the sample will be derived from the Vineland Adaptive Behavior Scales, Third Edition: Parent/Caregiver Report (Vineland-3). Subdomain v-Scaled scores range from 1-24 with higher numbers indicating greater performance; while domain scores are presented in standard score formats with a range of 20-140 with higher scores indicating greater performance.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Autism Symptoms</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Communication and Symbolic Behavior Scale (CSBS). The parent report developmental profile is a standardized measure is completed to evaluate language and social communication predictors. A total of 57 points are available with age corresponding cutoff scores for clinical concern.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Autism Symptoms</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Modified Checklist for Autism in Toddlers (MCHAT). The Modified Checklist for Autism in Toddlers is a scientifically validated tool for screening children between 16 and 30 months of age that assesses risk for autism spectrum disorder (ASD).Scores range from 0-20 with corresponding ranges for cutoff scores warranting further follow-up.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Autism Symptoms</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). The ADOS-2 is a semi-structured, standardized assessment of communication, social interaction, play, and restricted and repetitive behaviors. It is directly administered to the participant and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Autism Symptoms</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the TELE-ASD-PEDS. The TELE-ASD-PEDS was developed by researchers at Vanderbilt University to assess remotely autism symptomology. The TELE-ASD-PEDS measures communication, social interaction, play, and restricted and repetitive behaviors. It is administered via telehealth and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Autism Symptoms</measure>
    <time_frame>Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)</time_frame>
    <description>A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Repetitive Behavior Scales (RBS). The RBS-EC is a questionnaire measure of restricted and repetitive behaviors designed for use in children from infancy through early school age. It is intended to capture individual differences across a broad range of behaviors associated with the repetitive behavior domain. Total scores range from 0-136 with a higher score indicating greater need/presence of behaviors.</description>
  </secondary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">120</enrollment>
  <condition>Fragile X Syndrome</condition>
  <condition>Angelman Syndrome</condition>
  <condition>Prader-Willi Syndrome</condition>
  <condition>Dup15Q Syndrome</condition>
  <condition>Duchenne Muscular Dystrophy</condition>
  <condition>Phelan-McDermid Syndrome</condition>
  <condition>Rett Syndrome</condition>
  <condition>Smith Magenis Syndrome</condition>
  <condition>Williams Syndrome</condition>
  <condition>Turner Syndrome</condition>
  <condition>Klinefelter Syndrome</condition>
  <condition>Chromosome 22q11.2 Deletion Syndrome</condition>
  <condition>Tuberous Sclerosis</condition>
  <condition>Down Syndrome</condition>
  <arm_group>
    <arm_group_label>Infants with a rare neurogenetic condition and their parent/primary caregiver(s)</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>PIXI</description>
  </arm_group>
  <intervention>
    <intervention_type>Behavioral</intervention_type>
    <intervention_name>Parent-Infant Inter(X)action Intervention (PIXI)</intervention_name>
    <description>Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.</description>
    <arm_group_label>Infants with a rare neurogenetic condition and their parent/primary caregiver(s)</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Infants 12 months of age or younger who have received a diagnosis which was not sought&#xD;
             solely due to parental concerns about the infant (e.g. diagnosis due to prenatal or&#xD;
             newborn screening, cascade testing following diagnosis of a family member).&#xD;
&#xD;
          -  English must be the primary language spoken in the home because all assessment&#xD;
             measures and intervention protocol are in English.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        - Infants may not be blind or have a severe hearing impairment as the intervention and&#xD;
        assessments are not appropriate for these children.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>99 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Anne Wheeler, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>RTI International</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>RTI International</name>
      <address>
        <city>Research Triangle Park</city>
        <state>North Carolina</state>
        <zip>27709</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>April 2023</verification_date>
  <study_first_submitted>February 7, 2019</study_first_submitted>
  <study_first_submitted_qc>February 7, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">February 11, 2019</study_first_posted>
  <last_update_submitted>April 26, 2023</last_update_submitted>
  <last_update_submitted_qc>April 26, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">April 28, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Early intervention</keyword>
  <keyword>Parent-Child interaction</keyword>
  <keyword>Rare Neurogenetic Conditions</keyword>
  <keyword>Intellectual and Developmental Disabilities</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Tuberous Sclerosis</mesh_term>
    <mesh_term>Muscular Dystrophies</mesh_term>
    <mesh_term>Muscular Dystrophy, Duchenne</mesh_term>
    <mesh_term>DiGeorge Syndrome</mesh_term>
    <mesh_term>Down Syndrome</mesh_term>
    <mesh_term>Prader-Willi Syndrome</mesh_term>
    <mesh_term>Fragile X Syndrome</mesh_term>
    <mesh_term>Rett Syndrome</mesh_term>
    <mesh_term>Angelman Syndrome</mesh_term>
    <mesh_term>Williams Syndrome</mesh_term>
    <mesh_term>Smith-Magenis Syndrome</mesh_term>
    <mesh_term>Turner Syndrome</mesh_term>
    <mesh_term>Klinefelter Syndrome</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <!-- 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/NCT03836300
org study id: 18-2079
nct id: NCT03836300
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The objective is to develop and test, through an iterative process, an intervention to
      address and support the development of infants with a confirmed diagnosis of neurogenetic
      disorders that leave individuals at risk for developmental delays or intellectual and
      developmental disabilities. The proposed project will capitalize and expand upon existing
      empirically based interventions designed to improve outcomes for infants with suspected
      developmental delays.

      Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g.,
      fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams,
      Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of
      life and their parents/caregivers.

      The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive
      program inclusive of parent education about early infant development and the neurogenetic
      disorder for which they were diagnosed, direct parent coaching around parent-child
      interaction, and family/parent well-being support. The protocol includes repeated
      comprehensive assessments of family and child functioning, along with an examination of
      feasibility and acceptability of the program.
The primary goal of the proposed project is to develop and test, through an iterative
      process, an intervention to address and support the development of infants with a rare
      neurogenetic condition (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid,
      Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular
      dystrophy) identified prior to emergence of symptoms. PiXI aims to utilize the foundational
      knowledge available around the development of and early intervention for at-risk infants to
      both understand the needs of and provide intervention services for families of infants
      diagnosed pre-symptomatically with rare neurogenetic disorders.

      The investigators aim to 1) develop PIXI with a pilot sample of families, 2) test the
      preliminary effects of PIXI on infant and parent outcomes
allocation: N/A
intervention model: Single Group Assignment
intervention model description: The intervention, called Parent-infant Interaction Intervention (PIXI) is a comprehensive intervention provided across the first year of life for parents/caregivers of infants identified with a rare neurogenetic disorder. It includes psychoeducation around the disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.
primary purpose: Treatment
masking: None (Open Label)
measure: Social Validity and Acceptability
time frame: Completion of Phase 1 (approximately six months of age)
description: A social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention.
measure: Social Validity and Acceptability
time frame: Completion of Phase 2 (approximately twelve months of age)
description: A social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention. Qualitative interviewing will be also be conducted to examine parent perceptions of feasibility and acceptability.
measure: Fidelity
time frame: Completion of Phase 1 (approximately six months of age)
description: Overall intervention fidelity will be measured by determining if the following goals were achieved:
Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2
measure: Fidelity
time frame: Completion of Phase 2 (approximately twelve months of age)
description: Overall intervention fidelity will be measured by determining if the following goals were achieved:
Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2
measure: Parent Implementation and Engagement
time frame: Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
description: Internal parent implementation and engagement forms will be used to measure parent participation across both intervention phases. These components include parent readiness for the session, attention to materials, participation in topic discussion, appropriateness of intervention activity practice, and general presentation with their child.
measure: Early Developmental Outcomes
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: Descriptive statistics around early learning, motor, communication skills, interpersonal, and adaptive skills in the sample will be derived from the Vineland Adaptive Behavior Scales, Third Edition: Parent/Caregiver Report (Vineland-3). Subdomain v-Scaled scores range from 1-24 with higher numbers indicating greater performance; while domain scores are presented in standard score formats with a range of 20-140 with higher scores indicating greater performance.
measure: Autism Symptoms
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Communication and Symbolic Behavior Scale (CSBS). The parent report developmental profile is a standardized measure is completed to evaluate language and social communication predictors. A total of 57 points are available with age corresponding cutoff scores for clinical concern.
measure: Autism Symptoms
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Modified Checklist for Autism in Toddlers (MCHAT). The Modified Checklist for Autism in Toddlers is a scientifically validated tool for screening children between 16 and 30 months of age that assesses risk for autism spectrum disorder (ASD).Scores range from 0-20 with corresponding ranges for cutoff scores warranting further follow-up.
measure: Autism Symptoms
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). The ADOS-2 is a semi-structured, standardized assessment of communication, social interaction, play, and restricted and repetitive behaviors. It is directly administered to the participant and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.
measure: Autism Symptoms
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the TELE-ASD-PEDS. The TELE-ASD-PEDS was developed by researchers at Vanderbilt University to assess remotely autism symptomology. The TELE-ASD-PEDS measures communication, social interaction, play, and restricted and repetitive behaviors. It is administered via telehealth and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.
measure: Autism Symptoms
time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
description: A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Repetitive Behavior Scales (RBS). The RBS-EC is a questionnaire measure of restricted and repetitive behaviors designed for use in children from infancy through early school age. It is intended to capture individual differences across a broad range of behaviors associated with the repetitive behavior domain. Total scores range from 0-136 with a higher score indicating greater need/presence of behaviors.
arm group label: Infants with a rare neurogenetic condition and their parent/primary caregiver(s)
arm group type: Experimental
description: PIXI
intervention type: Behavioral
intervention name: Parent-Infant Inter(X)action Intervention (PIXI)
description: Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.
arm group label: Infants with a rare neurogenetic condition and their parent/primary caregiver(s)
criteria: 
gender: All
minimum age: N/A
maximum age: 99 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Anne Wheeler, PhD
role: Principal Investigator
affiliation: RTI International
facility: 
country: United States
responsible party type: Sponsor
mesh term: Tuberous Sclerosis
mesh term: Muscular Dystrophies
mesh term: Muscular Dystrophy, Duchenne
mesh term: DiGeorge Syndrome
mesh term: Down Syndrome
mesh term: Prader-Willi Syndrome
mesh term: Fragile X Syndrome
mesh term: Rett Syndrome
mesh term: Angelman Syndrome
mesh term: Williams Syndrome
mesh term: Smith-Magenis Syndrome
mesh term: Turner Syndrome
mesh term: Klinefelter Syndrome
mesh term: Syndrome