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出境医 / 临床实验 / Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study (miROI)
Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study (miROI)
Study Description
Brief Summary:
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.
| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Osteogenesis Imperfecta | Biological: Blood sample | Not Applicable |
Study Design
| Study Type : | Interventional (Clinical Trial) |
| Estimated Enrollment : | 100 participants |
| Allocation: | Non-Randomized |
| Intervention Model: | Parallel Assignment |
| Masking: | None (Open Label) |
| Primary Purpose: | Other |
| Official Title: | Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study |
| Actual Study Start Date : | October 3, 2019 |
| Estimated Primary Completion Date : | November 15, 2021 |
| Estimated Study Completion Date : | November 15, 2021 |
Arms and Interventions
| Arm | Intervention/treatment |
|---|---|
|
Experimental: Osteogenesis imperfecta type 1
Patients with OI type 1
|
Biological: Blood sample
A study specific blood sample will be collected.
|
|
Experimental: Osteogenesis imperfecta type 3
Patients with OI type 3
|
Biological: Blood sample
A study specific blood sample will be collected.
|
|
Active Comparator: Control population
The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men).
|
Biological: Blood sample
Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study.
|
Outcome Measures
Primary Outcome Measures :
- micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population [ Time Frame: up to 1 month (after inclusion) ]Identification of specific miRs expressed in the serum of OI patients using NGS (Next Generation Sequencing).
Secondary Outcome Measures :
- Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS ) [ Time Frame: Up to 1 month (after inclusion) ]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).
- Level of expression of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS ) [ Time Frame: Up to 1 month (after inclusion) ]
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.
- Presence of fracture [ Time Frame: Up to 1 month (after inclusion) ]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.
- Presence of biochemical markers of bone turnover in blood [ Time Frame: Up to 1 month (after inclusion) ]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.
- Bone pain [ Time Frame: Up to 1 month (after inclusion) ]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.
- Quality of life [ Time Frame: Up to 1 month (after inclusion) ]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.
- Assessment of environmental factors [ Time Frame: Up to 1 month (after inclusion) ]
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.
Eligibility Criteria
| Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
Criteria
Inclusion Criteria:
Control population:
- Male or female
- 18 years old and over
- Be part of cohorts STRAMBO, OFELY or MODAM
Patients with OI:
- Male or female ≥18 years old
- Have COL1A1 or COL1A2 mutation
- Have a diagnosis of type 1 or 3 from Silence classification made by a rheumatologist expert in bone pathologies
Exclusion Criteria:
- Refusal to participate in the study
- Have received glucocorticoid treatment for more than 3 months
- Have received anti-osteoporotic treatment for less than 1 year ago
- Have Chronic inflammatory rheumatism
- Have an uncontrolled hypo/hyper thyroidism ou hypo/hyper parathyroidism
- Have cancer or bone metastases (current or in the past two years)
- Have benign bone tumors or Paget's disease
- Have malabsorptive disease (Celiac disease, Whipple's disease, intestinal bypass, short bowel syndrome) and inflammatory bowel disease
- Pregnant or lactating women
- Have psychiatric disorders seriously hindering understanding
- Have difficulties in oral understanding of French language
- Not a beneficiary of french social security
- Patients protected by law
Contacts and Locations
Contacts
| Contact: Flora Bagouet | 04 72 11 01 79 ext 33 | flora.bagouet@chu-lyon.fr | |
| Contact: Roland CHAPURLAT, PhD | 04 72 11 74 82 ext 33 | roland.chapurlat@chu-lyon.fr |
Locations
| France | |
| Hôpital Edouard Herriot | Recruiting |
| Lyon, France, 69003 | |
| Contact: Roland CHAPURLAT, MD, PhD +33 4.72.11.74.82 laurent.jacquin@chu-lyon.fr | |
| Principal Investigator: Roland CHAPURLAT, MD, PhD | |
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
| Principal Investigator: | Roland CHAPURLAT, PhD | Hospices Civils de Lyon |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date ICMJE | June 28, 2019 | ||||||||
| First Posted Date ICMJE | July 5, 2019 | ||||||||
| Last Update Posted Date | April 26, 2021 | ||||||||
| Actual Study Start Date ICMJE | October 3, 2019 | ||||||||
| Estimated Primary Completion Date | November 15, 2021 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE |
micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population [ Time Frame: up to 1 month (after inclusion) ] Identification of specific miRs expressed in the serum of OI patients using NGS (Next Generation Sequencing).
|
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| Original Primary Outcome Measures ICMJE | Same as current | ||||||||
| Change History | |||||||||
| Current Secondary Outcome Measures ICMJE |
|
||||||||
| Original Secondary Outcome Measures ICMJE | Same as current | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study | ||||||||
| Official Title ICMJE | Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study | ||||||||
| Brief Summary |
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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| Detailed Description | Not Provided | ||||||||
| Study Type ICMJE | Interventional | ||||||||
| Study Phase ICMJE | Not Applicable | ||||||||
| Study Design ICMJE | Allocation: Non-Randomized Intervention Model: Parallel Assignment Masking: None (Open Label) Primary Purpose: Other |
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| Condition ICMJE | Osteogenesis Imperfecta | ||||||||
| Intervention ICMJE |
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| Study Arms ICMJE |
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| Publications * | Not Provided | ||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Estimated Enrollment ICMJE |
100 | ||||||||
| Original Estimated Enrollment ICMJE | Same as current | ||||||||
| Estimated Study Completion Date ICMJE | November 15, 2021 | ||||||||
| Estimated Primary Completion Date | November 15, 2021 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE |
Inclusion Criteria: Control population:
Patients with OI:
Exclusion Criteria:
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| Sex/Gender ICMJE |
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| Ages ICMJE | 18 Years and older (Adult, Older Adult) | ||||||||
| Accepts Healthy Volunteers ICMJE | No | ||||||||
| Contacts ICMJE |
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| Listed Location Countries ICMJE | France | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number ICMJE | NCT04009733 | ||||||||
| Other Study ID Numbers ICMJE | 69HCL19_0021 2019-A00521-56 ( Other Identifier: ID-RCB ) |
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| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement ICMJE | Not Provided | ||||||||
| Responsible Party | Hospices Civils de Lyon | ||||||||
| Study Sponsor ICMJE | Hospices Civils de Lyon | ||||||||
| Collaborators ICMJE | Not Provided | ||||||||
| Investigators ICMJE |
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| PRS Account | Hospices Civils de Lyon | ||||||||
| Verification Date | April 2021 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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