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Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes

Italy30 participantsStarted 2023-10-06

Plain-language summary

The objective of this project is to explore the potential of functional near-infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Creatine Deficiency Syndromes (CDS), a group of rare neurodevelopmental disorders. Among these disorders, effective treatments are lacking for two. The limited availability of objective and quantitative biomarkers to monitor brain function poses challenges to advancing therapeutic research. With gene therapy trials on the horizon, the need for precise measurement to evaluate treatment efficacy is pressing. This project seeks to address this gap by assessing the prognostic reliability of both resting and task-evoked fNIRS. Arousal of participants will be also assessed through the measure of spontaneous heart rate (HR) fluctuations. The primary objectives of this pilot study are: 1. to determine the feasibility of fNIRS in individuals with CDS; 2. to collect pilot data on individuals with CDS to determine the patterns of cerebral oxygen consumption as measured by fNIRS; 3. to compare cerebral oxygen consumption changes at rest and from visual/auditory tasks in affected individuals versus age-appropriate healthy volunteers. The secondary objectives of this study are: 1. to correlate cerebral oxygen consumption changes from visual/auditory task in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease- specific severity rating scales); 2. to examine test-retest reliability of our fNIRS measures in both affected individuals and healthy controls.

Who can participate

Age range2 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: CDS participants: * Age criteria: Between ages 2 years to 50 years old, inclusive at time of enrollment * Diagnosed with either CTD or GAMT-D with a previously identified pathogenic or likely pathogenic variant in the SLC6A8 or GAMT gene. * Must also meet the diagnostic criteria for CTD/GAMT-D. * May be female or 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 CDS 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 CDS 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

What they're measuring

Resting-state functional connectivity

Timeframe: 3 years

Amplitude of sensory-evoked hemodynamic responses

Timeframe: 3 years

Trial details

NCT IDNCT06292884

SponsorIRCCS Fondazione Stella Maris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-06-15

Contact for this trial

Roberta Battini, MD

+39 050886282 roberta.battini@fsm.unipi.it