Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy

Sponsor
Assistance Publique - Hôpitaux de Paris
Study ID
NCT05911919
Status
Not Yet Recruiting

Notify me when recruiting opens

Save your spot on the interest list for this study. We'll keep your details with this study so our team can follow up when recruiting opens.

Not yet recruiting

Add your contact details and location so we can keep your interest tied to this study.

Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • brainQuant module of brainTale-care platform — DEVICE
    brainQuant is a software module of brainTale-care medical device (a medical device software as a service (web platform) ) for the automatic processing of brain diffusion Magnetic resonance images and the provision of the diffusion regional standardised parameters.

Study Details

CALD is an inflammatory demyelinating disease that causes severe motor and cognitive deficit leading to rapid death. Hematopoietic stem cell transplantation (HSCT) can halt neuroinflammation in CALD through the replacement of microglia (i.e., brain immune system) but only if performed during its early phase. Using standard brain MRI, it is estimated that only 30% of adult CALD patients are identified. Complex and lengthy clinical evaluations together with MRI reading from experts improve CALD detection but are not available in routine clinical practice. Diffusion tensor imaging is a quantitative microstructural technique that can identify neuroinflammation at a very early stage. Still, its implementation in clinical practice has been very limited due to high inter-center measurements variability and bias due to data quality issues. The approach we will use solves these problems by introducing an automatic calibration and standardization with systematic quality control enabling the use of all MRI scanners in clinical settings. The innovative aspect of this project lies on the validation of an expert-independent prognosis biomarker able to specifically identify patients at high-risk to convert to CALD so that treatment can be initiated at the early stage of neuroinflammation. We aim to demonstrate that this tool has at least a 2-fold sensitivity compared to the current standard of care.

Key Dates

Start date
Sep 30, 2023
Status verified
Jun 2023
Primary completion
Sep 30, 2028
Completion
Sep 30, 2028

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: Patients
    Patients with ABCD1 pathogenic variant
  • Arm: Healthy volunteers
    Healthy volunteers inclusion in order to calibrate the MRI machine used and its settings.

Primary Outcome Measure

Sensitivity of RD-index19 change of at least 1 point between two consecutive annual measurements to diagnose CALD before or at the same time than the reference diagnostic made by an expert committee [ Time Frame: 1 year, 2 years, 3 years ]

Central Contacts

Related Studies