Neurodegeneration With Brain Iron Accumulation (NBIA)QUBIPANNCT07868120
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
A study testing Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM) in people with Neurodegeneration With Brain Iron Accumulation (NBIA) and Iron Metabolism Disorders, run by University Hospital, Bordeaux at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 18 years
- Conditions the study is for
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- What is being tested?
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteFrance
- Study dates
- Dec 2026to Dec 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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 :
- 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)
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- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
CHU de Bordeaux
Bordeaux, 33076
Chloé ANGELINI, MD, chloe.angelini@chu-bordeaux.fr
Chloé ANGELINI, MD
About this study
Official title: QUBIPAN: Quantifying Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
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
Read the detailed description
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
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- Being tested
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Keywords
- BPAN, NBIA, Quantitative Susceptibility Mapping, Brain Iron, MRI, Neurodegeneration, Biomarker, Longitudinal study
- Medical subject headings
- Pantothenate Kinase-Associated Neurodegeneration, Iron Metabolism Disorders, Brain Diseases, Nerve Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Brain Iron
Quantitative change on intracerebral iron levels using QSM technology in BPAN patients between baseline (Day 0) and 18 months
Measured: Baseline (T0), month 18 (T18).
Secondary outcomes (1)
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.
Measured: Baseline (T0), month 18 (T18).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Oct 2026
- Study startDec 2026 (estimated)
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodegeneration With Brain Iron Accumulation (NBIA)Studies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Chloé ANGELINI, MD, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07868120
- Sponsor's protocol ID
- CHUBX 2026/021
- Acronym
- QUBIPAN
- Status last verified
- Sep 2026
- First submitted
- 25 Sep 2026
- Last updated
- 9 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- QUBIPAN: Quantifying Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
- ClinicalTrials.gov ID
- NCT07868120
- Acronym / sponsor ID
- QUBIPAN / CHUBX 2026/021
- 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
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 3 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- Dec 2026 (estimated)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 9 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with genetically confirmed BPAN | Experimental | Other: Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)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 |
Who may qualify
- Ages
- 5 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (10 listed)
- 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:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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. | Other | Patients with genetically confirmed BPAN |
Primary outcome
Brain Iron
Time frame: Baseline (T0), month 18 (T18).
Quantitative change on intracerebral iron levels using QSM technology in BPAN patients between baseline (Day 0) and 18 months
1 secondary outcome
Correlation between intracerebral iron levels and clinical symptom severity
Time frame: Baseline (T0), month 18 (T18).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Oct 2026.
Related trials for Neurodegeneration With Brain Iron Accumulation (NBIA)
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TIRCON International NBIA Registry
Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Chloé ANGELINI, MD principal investigator
University Hospital, Bordeaux
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM) in people with Neurodegeneration With Brain Iron Accumulation (NBIA) and Iron Metabolism Disorders, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 9 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Chloé ANGELINI, MD (+335.56.79.59.52, chloe.angelini@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Brain Iron (time frame: Baseline (T0), month 18 (T18).). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Oct 2026.