Fibrous Dysplasia/McCune-Albright Syndrome
Conditions
Keywords
Fibrous dysplasia, McCune Albright, MEKANOS tool, MAS-DF, bone disease, fracture risk in rare bone disease
Brief summary
The issue of rare diseases has become a public health priority. In France, a national plan for rare diseases was published in 2004. It leads to the creation and certification of numerous Rare Disease Reference Centers by the French National Authority for Health (Haute Autorité de Santé). Our Fibrous Dysplasia Reference Center has been certified since 2006. However, evaluating the mechanical strength and fracture risk of fibrous dysplasia lesions remains a major unresolved challenge for clinicians. Improving the assessment of fracture risk therefore represents a key clinical objective.
Interventions
OTHERApplication of MEKANOS tool to CT scans
MEKANOS tool is an algorithm that automatically segments femurs from clinical CT scans, generates a numerical model, and performs a numerical simulation of single leg stance loading on these femurs. The tool is developed within INSERM unit 1033 and is currently available only in the laboratory. Input data consist of CT imaging (DICOM format) and retrospective clinical data. The output is the failure load expressed in Newtons.Interpretation of the results involves determining fracture risk based on the failure load (pathological bone versus healthy bone), and then integrating patient size and weight. CT Scans are issued from the HCL PACS, and clinical data issued from Easily Hybrid DF database.
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Adults with Fibrous Dysplasia (FD) of the bone or McCune-Albright Syndrome (MAS); * who have received care at the center through outpatient consultation, multidisciplinary evaluation, or hospitalization; * whose diagnosis was confirmed by an expert physician from the reference center based on a combination of clinical, biochemical, and radiological criteria, in accordance with the recommendations of the international FD/MAS consortium (Javaid MK et al., Orphanet J Rare Dis. 2019); * for whom a histological confirmation was obtained in cases of diagnostic uncertainty; * no objection to data collection
Exclusion criteria
* \- CT scan with implanted material on the femur, * Individuals under legal protection measures
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Tool X | CT scans of Patients with femoral fibrous dysplasia lesions performed from January 2002 until 9 March 2025. | Obtaining an image suitable for processing with tool X in order to compute failure strength through numerical simulation (i.e., adequate bone segmentation and a correctly implemented numerical model with appropriate boundary conditions). |
Countries
France
Outcome results
None listed