The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young children (0-5 yo) with a genetic diagnosis of A-T, that could be used in future early-life intervention trials.
Study Type
OBSERVATIONAL
Enrollment
56
Brain MRI - Volumetric structural T1-weighted (T1)
Volume (mm³) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Time frame: Up to 4 years ( last visit)
Brain MRI - Magnetic Resonance Spectroscopy (MRS): quantification of N-acetyl aspartate in the cerebellum
Chemical shift (ppm) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Time frame: Up to 4 years ( last visit)
Brain MRI - Diffusion Weighted Imaging (DWI)
Apparent Diffusion Coefficient (mm²/s) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Time frame: Up to 4 years ( last visit)
Neurological and developmental assessment
* A-TNEST test * Denver Developmental Screening Test II (DDST)
Time frame: Up to 4 years ( last visit)
Quantitative movement analysis
Quantitative analysis of limb, facial and eye movements will be made using a machine learning approach.
Time frame: Up to 4 years ( last visit)
Serum markers of neurodegeneration
* Neurofilament light chain (NFL) * Glial fibrillary acidic protein (GFAP)
Time frame: Up to 4 years ( last visit)
Lung MRI
• Lung MRI metrics, feasibility, and the results of the quantitative analyses, where it has been possible to do this. * free-breathing proton-based ventilation * structural images using the proton-based techniques
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Time frame: Up to 4 years ( last visit)
Natural sleep MRI procedure
Completion rates (%) and image quality (Signal-to-Noise Ratio, SNR, and Contrast-to-Noise Ratio CNR - unitless ) when using the sleep MRI protocol
Time frame: Up to 4 years ( last visit)