This study aims to quantify intracerebral iron load in patients with Beta-Propeller Protein-Associated Neurodegeneration (BPAN) using Quantitative Susceptibility Mapping (QSM) technique. The primary objective is to assess the longitudinal robustness of QSM measurements over an 18-month follow-up. This pilot study also explores the relationship between iron accumulation and clinical severity. Ultimately, it seeks to validate QSM as a non-invasive biomarker for disease monitoring and future therapeutic trials
Affiliation to a social security system
French-speaking participants
Age between 5 and 18 years
Genetically confirmed BPAN (WDR45 mutation)
Presence of a pacemaker, neurostimulator, or implantable defibrillator (risk of temporary or permanent damage to the device, deprogramming, or heating of metal components)
Presence of cochlear implants (risk of demagnetization, electrode overheating, and artifacts)
Presence of ferromagnetic foreign bodies in the eye or brain near nerve structures (risk of displacement and complications such as brain injury or blindness)
Presence of metal prostheses, particularly orthodontic braces
Single group
Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
Other interventionAll participants will undergo standardized study procedures at two time points (baseline and 18 months), including brain MRI acquisition and clinical assessments. Brain MRI will be performed using a standardized protocol, including conventional sequences and additional sequences required for Quantitative Susceptibility Mapping (QSM), such as multi-echo gradient-echo acquisitions sensitive to magnetic susceptibility variations. No contrast agent will be administered. QSM maps will be reconstructed using validated post-processing methods, and quantitative analyses will be conducted in predefined regions of interest (e.g., substantia nigra, globus pallidus) to estimate intracerebral iron load. At each visit, participants will undergo clinical evaluations, including neurological examination and assessment of motor and adaptive functions using validated scales. All procedures will be repeated at 18 months under similar conditions to enable longitudinal intra-individual comparisons.
Brain Iron
Quantitative change on intracerebral iron levels using QSM technology in BPAN patients between baseline (Day 0) and 18 months
Correlation between intracerebral iron levels and clinical symptom severity
To evaluate the potential association between quantitative intracerebral iron levels in the different regions of interest (ROIs) and clinical symptom severity, as assessed by the clinical test scores.
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