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Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
Sponsor: University Hospital, Bordeaux
Summary
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
Official title: QUBIPAN: Quantifying Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
Key Details
Gender
All
Age Range
5 Years - 18 Years
Study Type
INTERVENTIONAL
Enrollment
3
Start Date
2026-12
Completion Date
2028-12
Last Updated
2026-10-09
Healthy Volunteers
No
Conditions
Interventions
Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
All 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.
Locations (1)
CHU de Bordeaux
Bordeaux, France