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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-A00521-56 | Other Identifier | ID-RCB |
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Osteogenesis Imperfecta (OI) is a heterogeneous group of rare connective tissue hereditary diseases responsible for fragility and bone deformity. OI is caused by an autosomal dominant mutation of COL1A1 or COL1A2, encoding α1 and α2 of the collagen, regardless of their phenotypic severity (1 to 5 OI type).
This observation suggests the existence of a undetermined mechanism that may be found in epigenetic regulation, including particularly micro Ribonucleic Acids (miRs).
Indeed, these small non-coding miRs are involved in the regulation of major steps of cellular processes in different pathologies, especially in bone disease.
Currently, no study can provide a satisfactory answer.
This is an etiologic study to reveal the correlation between micro-RNAs (miR) expression and the type I or III of the Osteogenesis Imperfecta (OI).
The aim of this study is therefore to identify miRs significantly associated with the severity of OI.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Osteogenesis imperfecta type 1 | Experimental | Patients with OI type 1 |
|
| Osteogenesis imperfecta type 3 | Experimental | Patients with OI type 3 |
|
| Control population | Active Comparator | The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample | Biological | A study specific blood sample will be collected. |
|
| Measure | Description | Time Frame |
|---|---|---|
| micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population | Identification of specific miRs expressed in the serum of OI patients using NGS (Next Generation Sequencing). | up to 1 month (after inclusion) |
| Measure | Description | Time Frame |
|---|---|---|
| Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS ) | Compare the nature of the miRs identified by NGS (Next Generation Sequencing) in serum between the 3 groups of subjects: type 1 Osteogenesis Imperfecta (OI), type 3 OI and controls (controls are patients with osteoarthritis). | Up to 1 month (after inclusion) |
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Inclusion Criteria:
Control population:
Patients with OI:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Roland CHAPURLAT, PhD | Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Edouard Herriot | Lyon | 69003 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37715362 | Result | Mercier-Guery A, Millet M, Merle B, Collet C, Bagouet F, Borel O, Sornay-Rendu E, Szulc P, Vignot E, Gensburger D, Fontanges E, Croset M, Chapurlat R. Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study. J Bone Miner Res. 2023 Nov;38(11):1665-1678. doi: 10.1002/jbmr.4912. Epub 2023 Oct 2. |
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| ID | Term |
|---|---|
| D010013 | Osteogenesis Imperfecta |
| 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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| Blood sample | Biological | Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study. |
|
| Level of expression of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS ) |
The objective is to validate expression of miRs identified by NGS (Next Generation Sequencing) in blood samples of patients from 3 groups: an Osteogenesis imperfecta (OI) type 1 cohort and an OI type 3 cohort, recruited for the study, and a pre-existing group of control patients (issued from cohorts OFELY and MODAM for women, STRAMBO for men). Expression of the significant miRs identified by NGS will be measured by Reverse Transcription Quantitative Polymerase Chain Reaction (RT-qPCR) and then these results will be compared with same analysis on blood samples of control patients. |
| Up to 1 month (after inclusion) |
| Presence of fracture | Severity of OI will be evaluated using radiological data (fracture) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis. | Up to 1 month (after inclusion) |
| Presence of biochemical markers of bone turnover in blood | Severity of OI will be evaluated using biological data (biochemical markers of bone turnover) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis. | Up to 1 month (after inclusion) |
| Bone pain | Severity of OI will be evaluated using clinical data (bone pain mesured on Visual Analogue Scale) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis. | Up to 1 month (after inclusion) |
| Quality of life | Investigators will use a specific questionnaire completed by a rheumatologist at inclusion to obtain more information about a patient's lifestyle. The higher the score the more severe the disease impact and vice versa. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis. | Up to 1 month (after inclusion) |
| Assessment of environmental factors | The investigating team will use information extracted from patients' medical records to obtain environmental information, which includes using a specific questionnaire completed by a rheumatologist with patients at inclusion. Association between expression of miRs in patients with OI with the environmental data will be studied by statistics analysis. | Up to 1 month (after inclusion) |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |