An interventional study of Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM) in Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders and Brain Disease, sponsored by University Hospital, Bordeaux. Not yet recruiting at 1 site in France. Open to participants aged 5 Years to 18 Years. Per ClinicalTrials.gov, last updated 2026-10-09.
Sponsored by University Hospital, Bordeaux · Not applicable, Interventional, and Other
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
Neurodegeneration with Brain Iron Accumulation (NBIA) comprises a group of rare disorders characterized by progressive neurodegeneration and abnormal iron deposition in the brain. Among these, BPAN, caused by pathogenic variants in the WDR45 gene, is the most frequent subtype and follows a biphasic clinical course, with developmental delay, epilepsy and intellectual disability in childhood and progressive motor and cognitive decline in adolescence or early adulthood.
Conventional MRI allows detection of iron deposition but remains limited to qualitative assessment and lacks sensitivity at early stages. Quantitative Susceptibility Mapping (QSM) is an advanced MRI technique that enables non-invasive, in vivo quantification of magnetic susceptibility changes associated with iron deposition. Although QSM has been validated in other neurodegenerative disorders, its application in BPAN remains limited, with no longitudinal data available to date.
This study addresses the lack of quantitative biomarkers in BPAN and aims to better characterize the natural history of iron accumulation.
Participants will undergo standardized brain MRI including specific sequences usable for QSM at baseline and at 18 months. Clinical assessments, including motor and adaptive behavior scales, will be performed concurrently. No contrast agent will be used.
Each participant will be followed for 18 months, with two main study visits (baseline and 18 months). Clinical and imaging data will be collected at each visit as part of routine care and study procedures. Additional visits may occur if clinically indicated. The total study will last 24 months, including a 6-month inclusion period
21 studies on the registry are indexed under Iron Metabolism Disorders; 6 are open to participants now.
This study's planned enrollment of 3 is below the median of 27 across 12 interventional studies indexed under Iron Metabolism Disorders.
Browse Iron Metabolism Disorders studies →University Hospital, Bordeaux is the lead sponsor of 803 studies on the registry; 194 are open to participants now.
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Exclusion Criteria:
Patient-specific exclusion criteria :
o Participation in an interventional clinical trial that could interfere with our study or that includes an ongoing exclusion period
Contraindications to brain MRI :
Contraindications related to anesthesia:
Each participant will be followed for 18 months, with two main study visits (baseline and 18 months). Clinical and imaging data will be collected at each visit as part of routine care and study procedures. Additional visits may occur if clinically indicated
Other: 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.
Brain Iron
Quantitative change on intracerebral iron levels using QSM technology in BPAN patients between baseline (Day 0) and 18 months
Time frame: Baseline (T0), month 18 (T18).
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.
Time frame: Baseline (T0), month 18 (T18).
Start is estimated for Dec 2026; primary completion for Dec 2028, 24 months later.
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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