An interventional study of Blood sample and Blood sample in Osteogenesis Imperfecta, sponsored by Hospices Civils de Lyon. Completed at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-09-04.
Sponsored by Hospices Civils de Lyon · Not applicable, Interventional, and Other
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.
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
This study's enrollment of 66 is above the median of 28 across 60 interventional studies indexed under Osteogenesis Imperfecta.
Browse Osteogenesis Imperfecta studies →Hospices Civils de Lyon is the lead sponsor of 1,866 studies on the registry; 448 are open to participants now.
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Control population:
Patients with OI:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Cancer that has spread from where it began to other parts of the body. “Metastatic” cancer is cancer that has spread this way.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Metastases
Cancer that has spread from where it began to other parts of the body. “Metastatic” cancer is cancer that has spread this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with OI type 1
Biological: Blood sample
Patients with OI type 3
Biological: Blood sample
The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men).
Biological: Blood sample
A study specific blood sample will be collected.
Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study.
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).
Time frame: up to 1 month (after inclusion)
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).
Time frame: Up to 1 month (after inclusion)
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Up to 1 month (after inclusion)
Ran from Oct 2019 to primary completion in Apr 2022, 30 months.
Of 17 interventional studies with no phase under Osteogenesis Imperfecta, half reached primary completion within 22 months of starting (the median), counting those still running; a quarter within 15 and three quarters within 35. This study's 30 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in May 2023. You cannot join it, but the record below documents what was studied.
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