- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06293027
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
Establishing Novel Functional Biomarkers for Fragile X Syndrome
Study Overview
Status
Conditions
Detailed Description
This is a non-profit study of a cohort of patients with genetically determined Fragile X Syndrome and age-matched healthy controls. The design of the study is observational, case-control. An imaging session using fNIRS (NIRSport2, NIRx Technologies) will be conducted during the visits scheduled for the individual participants. Participants will be assessed for optimal placement of the fNIRS probe on the head through measurement of the fiducial points on the scalp. With the NIRx NIRSPort2 system, the near- infrared sources and detectors are situated in a fabric cap resembling a swim cap that is applied like a hat and secured in place by a velcro chin strap.
Once the probe is placed, fNIRS will be measured during a passive viewing/ listening task administered on a computer. The montage consists of 8 red light-sources operating at 760 nm and 850 nm, and 7 detectors which can be easily placed into a textile EEG cap (EASYCAP, Herrsching, Germany, size according to head circumference). The systems that are utilized have been selected to be very child-friendly systems, involving no cleaning or abrasion of the scalp preparation and rapid application. Application procedures have been designed to minimize any discomfort to the participant. In total, these measurements should take 30-40 minutes to complete (including application of the NIRS cap). Alongside fNIRS, neuropsychological assessments of affected individuals patients will be conducted. The following outcome measures will be collected assessing: i) cognitive performance (Leiter International Performance Scale, 3rd edition, PPVT-5, simple reasoning tasks on tablets and Vineland Adaptive Behaviour Scale); ii) behavioural disorder (BASC-3, ABC-2 scales and BRIEF); iii) autistic-like features (SRS-2 and PPD- MRS). The cognitive tasks were chosen to be adapted to the cognitive deficit of affected individuals. A task on tablets with minimal verbal instruction will allow to assess reasoning abilities in severe to moderate ID patients that could not perform classical Wechsler scale (IQ test). Healthy controls will be asked to return 8-12 weeks post their initial visit to undergo repeat fNIRS testing for the purposes of examining test-retest reliability of the fNIRS measurement. If their schedule allows, affected individuals will also undergo repeat fNIRS testing. fNIRS is safe, non-invasive and generally well tolerated. The information obtained from this study will help identify outcome measures for drug testing in future therapeutic trials.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Roberta Battini, MD
- Phone Number: +39 050886282
- Email: roberta.battini@fsm.unipi.it
Study Contact Backup
- Name: Laura Baroncelli, PhD
- Phone Number: +39 050886233
- Email: laura.baroncelli@fsm.unipi.it
Study Locations
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Toscana
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Marina di Pisa-Tirrenia-Calambrone, Toscana, Italy, 56128
- Recruiting
- IRCCS Fondazione Stella Maris
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Contact:
- Roberta Battini, MD
- Phone Number: +39 050886282
- Email: roberta.battini@fsm.unipi.it
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Contact:
- Laura Baroncelli, PhD
- Phone Number: +39 050886233
- Email: laura.baroncelli@fsm.unipi.it
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Sub-Investigator:
- Elena Scaffei, MD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
FXS participants:
- Age criteria: Between ages 2 years to 50 years old, inclusive at time of enrollment
- Diagnosed with FXS with a previously identified pathogenic or likely pathogenic variant in the FMR1 gene.
- Must also meet the diagnostic criteria for FXS.
- Male
Typically developing participants:
- Age criteria: Between ages 2 years to 50 years old, inclusive at time of enrollment
- Age- and sex-matched to the FXS participants
- No underlying genetic diagnosis or past/chronic medical condition associated with increased risk for autism spectrum disorder (ASD) and/or ID
- Typical neurodevelopment for age (no established diagnosis or clinical suspicion for ASD or ID)
Exclusion Criteria:
For FXS and Typically developing participants:
- Unwilling or unable to comply with study procedures and assessments
- Contraindications to fNIRS, such as uncooperative or destructive behaviors preventing lead placement or capture by fNIRS equipment
- Traumatic loss of consciousness in the last year
- Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
- If participant is judged by the PI or Sub-I to be inappropriate for the study for any reason
For Typically developing participants:
- Known or suspected cognitive impairment
- Known history of MRI abnormality
- Current use of psychotropic medications
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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Neurotypical controls
Healthy volunteers without known health or medical issues.
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FXS affected individuals
Individuals with genetic diagnosis of FXS.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Resting-state functional connectivity
Time Frame: 3 years
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The comparison of resting-state fNIRS signal between affected individuals and healthy controls will allow to detect potential alterations of spontaneous brain activity and functional connectivity
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3 years
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Amplitude of sensory-evoked hemodynamic responses
Time Frame: 3 years
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The analysis of the amplitude of sensory-evoked fNIRS signal will allow to assess whether this parameter is able to discriminate between affected individuals and healthy controls.
The signal latency will be analysed as well.
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3 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Correlation between neurophysiology endpoints and the response on neuropsychological scale.
Time Frame: 3 years
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The correlation analysis will allow to understand whether alterations of functional connectivity and/or sensory-evoked responses can be predictive of the severity of symptoms
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3 years
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Collaborators and Investigators
Sponsor
Publications and helpful links
General Publications
- Mazziotti R, Scaffei E, Conti E, Marchi V, Rizzi R, Cioni G, Battini R, Baroncelli L. The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children. Transl Psychiatry. 2022 Feb 8;12(1):53. doi: 10.1038/s41398-022-01820-5.
- Scaffei E, Mazziotti R, Conti E, Costanzo V, Calderoni S, Stoccoro A, Carmassi C, Tancredi R, Baroncelli L, Battini R. A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers. Brain Sci. 2023 Jun 14;13(6):951. doi: 10.3390/brainsci13060951.
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 (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Chromosome Disorders
- Sex Chromosome Disorders
- Syndrome
- Fragile X Syndrome
Other Study ID Numbers
- IMAGINER FXS
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
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.
Clinical Trials on Fragile X Syndrome
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University of California, DavisUniversity of Alberta; St. Justine's HospitalRecruitingNeurobehavioral Manifestations | Genetic Diseases, X-Linked | Intellectual Disability | Fragile X Syndrome | Sex Chromosome Disorders | Fragile X Mental Retardation Syndrome | Trinucleotide Repeat Expansion | Fra(X) Syndrome | FXS | Mental Retardation, X LinkedUnited States, Canada
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University of AlbertaSt. Justine's HospitalRecruitingNeurobehavioral Manifestations | Genetic Diseases, X-Linked | Mental Retardation, X-Linked | Intellectual Disability | Fragile X Syndrome | Sex Chromosome Disorders | Fragile X Mental Retardation Syndrome | Trinucleotide Repeat Expansion | Fra(X) Syndrome | FXSCanada