Fragile X SyndromeNCT03836300
Parent and Infant Inter(X)Action Intervention (PIXI)
A study testing Parent-Infant Inter(X)action Intervention (PIXI) in people with Fragile X Syndrome and Angelman Syndrome, run by RTI International at 1 site in United States.
Trial summary
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 a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. Read more about this study
- Who is it for?
- Ages Up to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome
- What is being tested?
- Parent-Infant Inter(X)action Intervention (PIXI)
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 120 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Nov 2018to 31 Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Infants 15 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.
Who cannot join
- Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
RTI International
Research Triangle Park, North Carolina, 27709
About this study
Official title: 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 a neurogenetic disorder with associated 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 the Parent and 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.
Read the 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
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome
- Being tested
- Parent-Infant Inter(X)action Intervention (PIXI)
- Keywords
- Early intervention, Parent-Child interaction, Rare Neurogenetic Conditions, Intellectual and Developmental Disabilities
- Medical subject headings
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Muscular Dystrophy, Duchenne, Telomeric 22q13 Monosomy Syndrome, Rett Syndrome, Smith-Magenis Syndrome, Williams Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Parent-Infant Inter(X)action Intervention (PIXI)Behavioural
Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.
| Study group | Role | What they receive |
|---|---|---|
| Infants with a rare neurogenetic condition and their parent/primary caregiver(s) | Experimental | PIXI Receives: Behavioral: Parent-Infant Inter(X)action Intervention (PIXI) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Social Validity and Acceptability
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.
Measured: Completion of Phase 1 (approximately six months of age)
Social Validity and Acceptability
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.
Measured: Completion of Phase 2 (approximately twelve months of age)
Fidelity
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
Measured: Completion of Phase 1 (approximately six months of age)
Fidelity
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
Measured: Completion of Phase 2 (approximately twelve months of age)
Secondary outcomes (7)
Parent Implementation and Engagement
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.
Measured: Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
Early Developmental Outcomes
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
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.
Measured: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Feb 2019
- Study start30 Nov 2018
- Primary completion30 Jun 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fragile X SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- 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.
- Masking
- None (open label)
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- RTI International
- Sponsor type
- University, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill
- Responsible party
- Principal investigator, Anne Wheeler, RTI International
- Investigators
- Anne Wheeler, PhD, Principal investigator, RTI International
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03836300
- Sponsor's protocol ID
- 18-2079
- Status last verified
- Jul 2026
- First submitted
- 7 Feb 2019
- Last updated
- 13 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders
- ClinicalTrials.gov ID
- NCT03836300
- Acronym / sponsor ID
- 18-2079
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome
- Keywords
- Early intervention, Parent-Child interaction, Rare Neurogenetic Conditions, Intellectual and Developmental Disabilities
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- RTI InternationalUniversity, hospital or other
- Collaborators
- University of North Carolina, Chapel Hill
- Study start
- 30 Nov 2018 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 11 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 a neurogenetic disorder with associated 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 the Parent and 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.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- 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.
| Arm | Type | Receives |
|---|---|---|
| Infants with a rare neurogenetic condition and their parent/primary caregiver(s) | Experimental | Behavioral: Parent-Infant Inter(X)action Intervention (PIXI)PIXI |
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Infants 15 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.
Key exclusion criteria (1 listed)
- Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Parent-Infant Inter(X)action Intervention (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. | Behavioural | Infants with a rare neurogenetic condition and their parent/primary caregiver(s) |
Primary outcome
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.
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.
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
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
7 secondary outcomes
Parent Implementation and Engagement
Time frame: Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
Early Developmental Outcomes
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Time frame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jul 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anne Wheeler, PhD principal investigator
RTI International
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Parent-Infant Inter(X)action Intervention (PIXI) in people with Fragile X Syndrome and Angelman Syndrome, run by RTI International at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 13 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Social Validity and Acceptability (time frame: Completion of Phase 1 (approximately six months of age)). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jul 2026.