- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03836300
Parent-Infant Inter(X)Action Intervention (PIXI)
Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders
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.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
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
Study Type
Enrollment (Anticipated)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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North Carolina
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Research Triangle Park, North Carolina, United States, 27709
- RTI International
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Infants 12 months of age or younger who have received a diagnosis which was not sought solely due to parental concerns about the infant (e.g. diagnosis due to prenatal or newborn screening, cascade testing following diagnosis of a family member).
- English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English.
Exclusion Criteria:
- Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Infants with a rare neurogenetic condition and their parent/primary caregiver(s)
PIXI
|
Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Social Validity and Acceptability
Time Frame: Completion of Phase 1 (approximately six months of age)
|
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.
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Completion of Phase 1 (approximately six months of age)
|
Social Validity and Acceptability
Time Frame: Completion of Phase 2 (approximately twelve months of age)
|
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.
|
Completion of Phase 2 (approximately twelve months of age)
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Fidelity
Time Frame: Completion of Phase 1 (approximately six months of age)
|
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 |
Completion of Phase 1 (approximately six months of age)
|
Fidelity
Time Frame: Completion of Phase 2 (approximately twelve months of age)
|
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 |
Completion of Phase 2 (approximately twelve months of age)
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Parent Implementation and Engagement
Time Frame: Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
|
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.
|
Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
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Early Developmental Outcomes
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
|
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.
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Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Autism Symptoms
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
|
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.
|
Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Autism Symptoms
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
|
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.
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Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Autism Symptoms
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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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.
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Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Autism Symptoms
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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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.
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Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Autism Symptoms
Time Frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
|
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.
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Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
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Collaborators and Investigators
Sponsor
Collaborators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neoplasms
- Lymphatic Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Endocrine System Diseases
- Disease
- Gonadal Disorders
- Disorders of Sex Development
- Urogenital Abnormalities
- Congenital Abnormalities
- Overnutrition
- Nutrition Disorders
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Musculoskeletal Diseases
- Parathyroid Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Movement Disorders
- Neurodegenerative Diseases
- Aortic Valve Disease
- Heart Valve Diseases
- Muscular Disorders, Atrophic
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Malformations of Cortical Development, Group I
- Malformations of Cortical Development
- Nervous System Malformations
- Abnormalities, Multiple
- Chromosome Disorders
- Obesity
- Sex Chromosome Disorders
- Neurocutaneous Syndromes
- Aortic Valve Stenosis
- Sex Chromosome Disorders of Sex Development
- Hamartoma
- Neoplasms, Multiple Primary
- Chronobiology Disorders
- 22q11 Deletion Syndrome
- Lymphatic Abnormalities
- Hypoparathyroidism
- Aortic Stenosis, Supravalvular
- Hypogonadism
- Gonadal Dysgenesis
- Syndrome
- Muscular Dystrophies
- Down Syndrome
- Muscular Dystrophy, Duchenne
- Prader-Willi Syndrome
- Fragile X Syndrome
- Rett Syndrome
- Turner Syndrome
- Williams Syndrome
- Angelman Syndrome
- Tuberous Sclerosis
- Smith-Magenis Syndrome
- DiGeorge Syndrome
- Klinefelter Syndrome
Other Study ID Numbers
- 18-2079
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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