Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)

NCT07868120 | Not Yet Recruiting

• 1 other identifier: CHUBX 2026/021
• Study Type: interventional
• Target: 3
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Neurodegeneration With Brain Iron Accumulation (NBIA); Iron Metabolism Disorders; Brain Disease

Keywords

BPAN; NBIA; Quantitative Susceptibility Mapping; Brain Iron; MRI; Neurodegeneration; Biomarker; Longitudinal study

Outcome Measures

Primary Outcomes (1)

• Brain Iron

  Quantitative change on intracerebral iron levels using QSM technology in BPAN patients between baseline (Day 0) and 18 months

  Baseline (T0), month 18 (T18).

Secondary Outcomes (1)

• Correlation between intracerebral iron levels and clinical symptom severity

  Baseline (T0), month 18 (T18).

Study Arms (1)

Patients with genetically confirmed BPAN

EXPERIMENTAL

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)

Interventions

Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM) OTHER

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.

Patients with genetically confirmed BPAN

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Affiliation to a social security system
• French-speaking participants
• Age between 5 and 18 years
• Genetically confirmed BPAN (WDR45 mutation)
• Written and free informed consent from at least one parent (e.g., in single-parent families) or the holder(s) of parental responsibility.

You may not qualify if:

• Contraindications to brain MRI :
• 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
• Presence of a ventriculoperitoneal shunt
• Contraindications related to anesthesia:
• Known allergy to one or more products used for anesthesia

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (1)

CHU de Bordeaux

Bordeaux, 33076, France

Location

MeSH Terms

Conditions

Pantothenate Kinase-Associated Neurodegeneration; Iron Metabolism Disorders; Brain Diseases; Nerve Degeneration

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuroaxonal Dystrophies; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Chloé ANGELINI, MD

  University Hospital, Bordeaux

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chloé ANGELINI, MD

CONTACT

+335.56.79.59.52; chloe.angelini@chu-bordeaux.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 25, 2026
• First Posted: October 9, 2026
• Study Start (Estimated): December 1, 2026
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: October 9, 2026

Record last verified: 2026-09

Locations

FR (1)