Using optical imaging to monitor brain function in creatine deficiency syndromes
Establishing Novel Functional Biomarkers for Creatine Deficiency Syndromes
This study is testing if a new brain imaging technique can help track brain function in people with Creatine Deficiency Syndromes to see how well treatments are working.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | IRCCS Fondazione Stella Maris Academic / other |
| Locations | 1 site (Pisa) |
| Trial ID | NCT06292884 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate the feasibility of functional near-infrared spectroscopy (fNIRS) as a biomarker for monitoring brain function in patients with Creatine Deficiency Syndromes (CDS). It will involve a cohort of individuals diagnosed with CDS and age-matched healthy controls, assessing brain activity during specific tasks while also measuring heart rate fluctuations. The study seeks to establish reliable methods for evaluating treatment efficacy as gene therapy trials approach, addressing the current lack of objective biomarkers in this area.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 to 50 years diagnosed with CTD or GAMT-D, as well as age- and sex-matched typically developing participants.
Not a fit: Patients who are unwilling or unable to comply with study procedures or have contraindications to fNIRS may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a reliable method for monitoring brain function in patients with creatine deficiency syndromes, facilitating the development of effective treatments.
How similar studies have performed: While the use of fNIRS in this specific context is novel, similar approaches in other neurodevelopmental disorders have shown promise.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Pisa
- IRCCS Fondazione Stella Maris — Pisa, Italy (Recruiting)
Study contacts
- Study coordinator: Roberta Battini, MD
- Email: roberta.battini@fsm.unipi.it
- Phone: +39 050886282
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.