Fibrous Dysplasia of Bone
Conditions
Brief summary
Fibrous dysplasia of bone is a rare congenital but non-hereditary disease caused by a post-zygotic activation mutation of the GNAS gene. Patients with fibrous dysplasia may present pain and bone complications (fractures, deformities..) related to their bone lesions. For undetermined reasons, severity and disease evolution may vary considerably from patient to patient. Epigenetic regulation could then be involved, including micro Ribonucleic Acids (miRs). These small non-coding micro Ribonucleic Acids are involved in the regulation of major steps of cellular processes in different pathologies, in particular in bone diseases. However, micro Ribonucleic Acids have never been studied in fibrous dysplasia. The aim of this study is to identify micro Ribonucleic Acids significantly associated with the severity of fibrous dysplasia.
Interventions
OTHERBlood sample
A study specific blood sample will be collected.
OTHERWaste bone tissue
For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery.
Sponsors
Hospices Civils de Lyon
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Control population : * men and women, * 18 years-old and over, * consulting a rheumatologist or an orthopedist for arthrosis * have scheduled surgery for hip or knee replacement surgery or any intervention involving the lower limb or upper limb. Patients with Fibrous dysplasia: * men and women, * 18 years-old and over, * with a diagnosis of fibrous dysplasia previously established by a rheumatologist.
Exclusion criteria
* Refusal to participate in the study * Long- term corticosteroids treatment (\> 3 months) * Treated osteoporosis * Chronic inflammatory rheumatism (rheumatoid arthritis, psoriasic arthritis, spondyloarthropathy) * Collagen disease (osteogenesis imperfecta…) * Paget's disease, benign bone tumors * Uncontrolled hypo/hyper-thyroidism, hypo/hyper-parathryoidism * Severe renal impairment (GFR \< 30 ml/min/1.73m2) * Cancer or bone metastases (current or in the past two years) * Paget disease, benign bone tumor (osteoid osteoma, enchondroma …) * Malabsorptive disease (Celiac disease, Whipple's disease, intestinal bypass, short bowel syndrome) and inflammatory bowel disease * Pregnant women or lactating * Psychiatric disorders * Difficulty in understanding French * Not a beneficiary of french social security * Patients protected by law
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of micro Ribonucleic acids expression in the serum | At inclusion | The objective is to identify specific microRibonucleic acids expressed in serum of patients using NGS (Next Generation Sequencing). |
| Evaluation of micro Ribonucleic acids expression in the bone tissue | At inclusion | The objective is to identify specific micro Ribonucleic acids expressed in bone tissue obtained from surgery (patients having a scheduled surgery for osteoarthritis or fibrous dysplasia) using NGS (Next Generation Sequencing) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of micro Ribonucleic acids expression | Time of realization of the analyzes, an average of 6 months | The objective is to compare nature and level of expression of the micro Ribonucleic acids identify by NGS (Next Generation Sequencing) in bone tissue and serum between the 3 groups of subjects: monostotic Fibrous Dysplasia, polyostotic Fibrous Dysplasia and controls (controls are patients with osteoarthritis). |
| Validation of micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in blood samples | Time of realization of the analyzes, an average of 6 months | The objective is to validate expression of micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in blood samples of patients from 4 pre-existing cohorts : a fibrous dysplasia cohort (PERIOSDYS) and 3 cohorts of control patients (OFELY and MODAM for women, STRAMBO for men). For that the expression of the significant micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in sera of patients with monostotic and polyostotic fibrous dysplasia versus control patients will be measured by RT-qPCR (Reverse Transcription Quantitative Polymerase Chain Reaction) and then these results will be compared with same analysis on blood samples of patients from the 4 pre-existing cohorts. |
| Association between micro Ribonucleic acids and severity of fibrous dysplasia. | Time of realization of the analyzes, an average of 6 months | Association between expression of significant micro Ribonucleic acids in patients with fibrous dysplasia with the severity of the disease will be studied by statistics analysis. Severity of fibrous dysplasia will be evaluated with clinical, biological and radiological data extracted from patients' medical records (Easily software) and from the CEMARA database (fibrous dysplasia database). |
Countries
France
Outcome results
None listed