Fragile X SyndromeNCT06560242
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
A study testing Speech discrimination in people with Fragile X Syndrome, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial summary
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than… Read more about this study
- Who is it for?
- Ages 6 to 26 monthsHealthy volunteers can take part
- Conditions the study is for
- Fragile X Syndrome
- What is being tested?
- Speech discrimination
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- 31 Oct 2022to 1 Mar 2027
- 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 6 to 26 months
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth
- able to sit independently
- English is spoken at home
Who cannot join
- For all participants: no seizures in the past 6 months
- For typical development group and Fragile X group: not born prior to 32 weeks gestation
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, 1 recruiting
- Recruiting
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
Elizabeth Smith, PhD, 5135171383, elizabeth.smith3@cchmc.org
About this study
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and speech learning in Fragile X is not well understood, especially in the infant and toddler years. This study uses behavioral assessment of speech and language abilities, neuroimaging, and hearing tests to understand how speech and hearing are different in children with Fragile X Syndrome.
Read the 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 infancy is essential for 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 toddlers 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 infants and toddlers, including 15 with FXS and 15 controls. Infants will complete visits at different ages, with possible visits at 6 months, 12 months, 18 months, and 24 months, so that changes with development can be tracked over time.
- Conditions
- Fragile X Syndrome
- Being tested
- Speech discrimination
- Medical subject headings
- Fragile X Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Speech discriminationOther
Two different speech sounds are played at the same sound intensity.
| Study group | Role | What they receive |
|---|---|---|
| Speech Sounds | Experimental | Participants listen to speech sounds while the investigators measure electrical and hemodynamic changes in the brain. Receives: Other: Speech discrimination |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Mullen Scales of Early Learning
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.
Measured: at 12 month, 18 month, and 24 month visits
Changes in oxygenated and deoxygenated hemoglobin concentration in response to sounds in language regions of the brain
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.
Measured: at 12 month, 18 month, and 24 month visits
Changes in amplitude of mismatch negativity response during sound discrimination
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.
Measured: at 12 month, 18 month, and 24 month visits
Changes in hearing thresholds
Hearing thresholds in dB as assessed using Conditioned Play Audiometry (CPA) or Visual Reinforced Audiometry (VRA) dependent on child age and developmental ability.
Measured: at 12 month, 18 month, and 24 month visits
Otoacoustic Emissions (OAEs)
Signals produced by excitation of hair cells in cochlea are measured for a range of frequencies.
Measured: at 12 month, 18 month, and 24 month visits
Changes in tympanometric pressure profile in the inner ear
Wide Band Tympanometry is completed to measure variability in tympanometric pressure for left and right ears that may affect hearing profile.
Measured: at 12 month, 18 month, and 24 month visits
Changes in LENA vocalizations and conversational turns
LENA is a voice recording system and proprietary program that records a child's home language environment. This recording is then digitally processed to model aspects of the child's own vocalizations and those of others'.
Measured: at 12 month, 18 month, and 24 month visits
Secondary outcomes (2)
Sensory profile 2 Auditory Processing subtest
parent-report measure of child's behavioral responses to sounds in their environment
Measured: at 6 month, 12 month, 18 month, and 24 month visits
Sensory Profile 2 Attentional subtest
parent-report measure of child's awareness of and responses to sensory cues in their environment.
Measured: at 6 month, 12 month, 18 month, and 24 month visits
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Aug 2024
- Study start31 Oct 2022
- Primary completion1 Mar 2027 (estimated)
- Study completion1 Mar 2027 (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.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- 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
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Elizabeth Smith, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06560242
- Sponsor's protocol ID
- K23HD109375 Aim2
- Other IDs
- K23HD109375
- Status last verified
- Jul 2026
- First submitted
- 15 Aug 2024
- Last updated
- 10 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Deidentified information will be shared as required for NIH grant supported studies.
Study at a glance
From the registry record, last updated by the sponsor on 10 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
- ClinicalTrials.gov ID
- NCT06560242
- Acronym / sponsor ID
- K23HD109375 Aim2
- Conditions
- Fragile X Syndrome
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Study start
- 31 Oct 2022 (actual)
- Primary completion
- 1 Mar 2027 (estimated)
- Study completion
- 1 Mar 2027 (estimated)
- First posted
- 19 Aug 2024 (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.
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and speech learning in Fragile X is not well understood, especially in the infant and toddler years. This study uses behavioral assessment of speech and language abilities, neuroimaging, and hearing tests to understand how speech and hearing are different in children with Fragile X Syndrome.
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 infancy is essential for 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 toddlers 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 infants and toddlers, including 15 with FXS and 15 controls. Infants will complete visits at different ages, with possible visits at 6 months, 12 months, 18 months, and 24 months, so that changes with development can be tracked over time.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Speech Sounds | Experimental | Other: Speech discriminationParticipants listen to speech sounds while the investigators measure electrical and hemodynamic changes in the brain. |
Who may qualify
- Ages
- 6 to 26 months
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth
- able to sit independently
- English is spoken at home
Key exclusion criteria (2 listed)
- For all participants: no seizures in the past 6 months
- For typical development group and Fragile X group: not born prior to 32 weeks gestation
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 |
|---|---|---|
| Speech discriminationTwo different speech sounds are played at the same sound intensity. | Other | Speech Sounds |
Primary outcome
Change in Mullen Scales of Early Learning
Time frame: at 12 month, 18 month, and 24 month visits
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.
Changes in oxygenated and deoxygenated hemoglobin concentration in response to sounds in language regions of the brain
Time frame: at 12 month, 18 month, and 24 month visits
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.
Changes in amplitude of mismatch negativity response during sound discrimination
Time frame: at 12 month, 18 month, and 24 month visits
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.
Changes in hearing thresholds
Time frame: at 12 month, 18 month, and 24 month visits
Hearing thresholds in dB as assessed using Conditioned Play Audiometry (CPA) or Visual Reinforced Audiometry (VRA) dependent on child age and developmental ability.
Otoacoustic Emissions (OAEs)
Time frame: at 12 month, 18 month, and 24 month visits
Signals produced by excitation of hair cells in cochlea are measured for a range of frequencies.
Changes in tympanometric pressure profile in the inner ear
Time frame: at 12 month, 18 month, and 24 month visits
Wide Band Tympanometry is completed to measure variability in tympanometric pressure for left and right ears that may affect hearing profile.
Changes in LENA vocalizations and conversational turns
Time frame: at 12 month, 18 month, and 24 month visits
LENA is a voice recording system and proprietary program that records a child's home language environment. This recording is then digitally processed to model aspects of the child's own vocalizations and those of others'.
2 secondary outcomes
Sensory profile 2 Auditory Processing subtest
Time frame: at 6 month, 12 month, 18 month, and 24 month visits
Sensory Profile 2 Attentional subtest
Time frame: at 6 month, 12 month, 18 month, and 24 month visits
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 10 Jul 2026.
- Individual participant dataSharing planned: Yes. Deidentified information will be shared as required for NIH grant supported studies.
Related trials for Fragile X Syndrome
Not yet recruitingPhase 2
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
Aggressive Behavior in Fragile X Syndome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Not yet recruiting
Single Session Support for Parents of Children With Neurodevelopmental Disabilities Struggling With Anxious Avoidance
Neurodevelopmental Disorders, Autism Spectrum Disorder (ASD)
RecruitingObservational study
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Not yet recruitingPhase 2/3
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS
Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD)
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Speech discrimination in people with Fragile X Syndrome, run by Children's Hospital Medical Center, Cincinnati 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 3 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 10 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?
Contact Elizabeth Smith, PhD (5135171383, elizabeth.smith3@cchmc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Mullen Scales of Early Learning (time frame: at 12 month, 18 month, and 24 month visits). The study lists 7 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 10 Jul 2026.