Ignite Creation Date:
2024-05-06 @ 8:13 PM
Last Modification Date:
2024-10-26 @ 3:22 PM
Study NCT ID:
NCT06292884
Status:
RECRUITING
Last Update Posted:
2024-03-05
First Post:
2024-02-20
Brief Title:
Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes
Sponsor:
IRCCS Fondazione Stella Maris
Organization:
IRCCS Fondazione Stella Maris
Study Overview
Official Title:
Establishing Novel Functional Biomarkers for Creatine Deficiency Syndromes
Status:
RECRUITING
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 visualauditory tasks in affected individuals versus age-appropriate healthy volunteers The secondary objectives of this study are 1 to correlate cerebral oxygen consumption changes from visualauditory task in affected individuals to other measures of disease state eg neuropsychological assessment disease- specific severity rating scales 2 to examine test-retest reliability of our fNIRS measures in both affected individuals and healthy controls
Detailed Description:
This is a non-profit study of a cohort of patients with Creatine Deficiency Syndromes genetically determined as CTD GAMT-D 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 viewinglistening 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 parallel ECG will be collected using the polygraphic input box that integrates the ECG with the fNIRS ECG records the electrical activity generated by the heart and can be used to derive both the heart rate and the pattern of electrical activity as it moves through the heart To measure ECG two electrodes will be applied to the skin over the lower left ribcage and the upper right collar bone after the skin has been cleansed and prepared with either abrasive paper or preparation gel 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 and ABC-2 scales 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None