- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05957549
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Fragile X Syndrome (FXS) is the leading monogenic cause of intellectual disability and autism and is associated with extremely high risk for early delays in speech and language. While the infant years are essential to speech and language development, neural mechanisms for language impairments have been studied entirely in older children and adults with FXS. Therefore, markers for speech and language impairments are unavailable in infants and young children with FXS to predict severity, test potential mechanisms, and track response to intervention. The investigators have identified a hallmark brain-based phenotype of hyperresponsiveness to sounds in adolescents and adults with FXS. This fundamental alteration in cortical responses to sound could influence early language delays, but this phenotype has not been explored in infants or toddlers with FXS.
Specifically, in this study the investigators will use simultaneous EEG/fNIRS during presentation of simple speech, stories, and nonspeech sounds to quantify and localize auditory hypersensitivity and neural differentiation in 30 preschoolers with FXS. The investigators will assess specificity through comparison with 30 typically developing controls and 30 mental-age matched children with a history of premature birth and language delays. In addition, the investigators will complete a longitudinal study (3 timepoints) of 15 infants with FXS and 15 TDC controls, with the first visit completed between 6 and 12 months of age. At each visit, the investigators will measure speech and hearing alongside cortical responses to sounds. In combination with quantitative assessment of linguistic complexity in each infant's home environment, the investigators will develop a potential model linking brain-based indicators with emergence of language delays in FXS
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Elizabeth Smith, PhD
- Phone Number: 5135171383
- Email: elizabeth.smith3@cchmc.org
Study Contact Backup
- Name: Craig Erickson, MD
- Phone Number: 5136366553
- Email: craig.erickson@cchmc.org
Study Locations
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Ohio
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Cincinnati, Ohio, United States, 45229
- Recruiting
- Cincinnati Children's Hospital
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Contact:
- Elizabeth Smith, PhD
- Phone Number: 513-517-1383
- Email: elizabeth.smith3@cchmc.org
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth
- able to sit independently
- English is spoken at home
Exclusion Criteria:
- For all participants: no seizures in the past 6 months
- For typical development group and Fragile X group: not born prior to 36 weeks gestation
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Basic Science
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Speech Sounds
Participants listen to speech sounds while the investigators measure electrical and hemodynamic changes in the brain.
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Two different speech sounds are played at the same sound intensity.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Change in Mullen Scales of Early Learning
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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change in Mullen Scales scores (age-corrected) from baseline on all subscales, including Expressive Language, Receptive Language, FIne Motor, Gross Motor, and Visual Reception.
T-Scores from the Mullen Scales of Early Learning (MSEL) have a mean of 50 and a standard deviation of 10.
Range=20-80.
Higher scores indicate more advanced developmental skills.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Changes in oxygenated and deoxygenated hemoglobin concentration in response to sounds in language regions of the brain
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Relative increase in oxygenated versus deoxygenated hemoglobin for no sounds, low intensity sounds, and medium intensity sounds.
Measured via functional Near Infrared Spectroscopy with optodes placed over frontal, temporal, and parietal language regions.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Changes in amplitude of mismatch negativity response during sound discrimination
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Electroencephalography is measured over the scalp while participant listens to speech sounds with infrequent "oddball" stimuli.
Amplitude of the P100 for all stimuli as well as amplitude of the mismatch negativity response (frequent minus infrequent response) as well as change in these metrics over development are tracked in all groups.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Changes in LENA vocalizations and conversational turns
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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LENA is a voice recording system and proprietary program that records a child's home language environment and quantifies number of sounds and words each child produces as well as complexity of home language environment via number of conversational turns between the child and parents.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Changes in hearing thresholds
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Hearing thresholds in dB as assessed using Conditioned Play Audiometry (CPA) or Visual Reinforced Audiometry (VRA) dependent on child age and developmental ability.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Otoacoustic Emissions (OAEs)
Time Frame: At first study visit
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Signals produced by excitation of hair cells in cochlea are measured for a range of frequencies.
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At first study visit
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Changes in tympanometric pressure profile in the inner ear
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Wide Band Tympanometry is completed to measure variability in tympanometric pressure for left and right ears that may affect hearing profile.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Sensory profile 2 Auditory Processing subtest
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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parent-report measure of child's behavioral responses to sounds in their environment
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Sensory Profile 2 Attentional subtest
Time Frame: at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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parent-report measure of child's awareness of and responses to sensory cues in their environment.
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at 6 month, 12 month, 18 month, 24 month, 3 year, and 4 year visits
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Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Chromosome Disorders
- Sex Chromosome Disorders
- Fragile X Syndrome
Other Study ID Numbers
- K23HD109375 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Supporting Information Type
- STUDY_PROTOCOL
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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