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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Monostotic fibrous dysplasia | Experimental | Patients with monostotic Fibrous dysplasia. |
|
| Polyostotic fibrous dysplasia | Experimental | Patients with polyostotic Fibrous dysplasia. |
|
| Controls | Active Comparator | Control patients having a scheduled surgery for osteoarthritis. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample | Other | A study specific blood sample will be collected. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Evaluation of micro Ribonucleic acids expression in the serum | The objective is to identify specific microRibonucleic acids expressed in serum of patients using NGS (Next Generation Sequencing). | At inclusion |
| Evaluation of micro Ribonucleic acids expression in the bone tissue | 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) | At inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Comparison of micro Ribonucleic acids expression | 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). | Time of realization of the analyzes, an average of 6 months |
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Inclusion Criteria:
Control population :
Patients with Fibrous dysplasia:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Rhumatologie & INSERM U1033, Pavillon F, Hopital Edouard Herriot | Lyon | 69437 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32526052 | Result | Legrand MA, Millet M, Merle B, Rousseau JC, Hemmendinger A, Gineyts E, Sornay-Rendu E, Szulc P, Borel O, Croset M, Chapurlat R. A Signature of Circulating miRNAs Associated With Fibrous Dysplasia of Bone: the mirDys Study. J Bone Miner Res. 2020 Oct;35(10):1881-1892. doi: 10.1002/jbmr.4111. Epub 2020 Jul 21. |
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| ID | Term |
|---|---|
| D005357 | Fibrous Dysplasia of Bone |
| ID | Term |
|---|---|
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Waste bone tissue | Other | For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery. |
|
| Validation of micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in blood samples | 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. | Time of realization of the analyzes, an average of 6 months |
| Association between micro Ribonucleic acids and severity of fibrous dysplasia. | 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). | Time of realization of the analyzes, an average of 6 months |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |