- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04009733
Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study (miROI)
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.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Flora Bagouet
- Phone Number: 33 04 72 11 01 79
- Email: flora.bagouet@chu-lyon.fr
Study Contact Backup
- Name: Roland CHAPURLAT, PhD
- Phone Number: 33 04 72 11 74 82
- Email: roland.chapurlat@chu-lyon.fr
Study Locations
-
-
-
Lyon, France, 69003
- Hôpital Edouard Herriot
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Osteogenesis imperfecta type 1
Patients with OI type 1
|
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.
|
Experimental: Osteogenesis imperfecta type 3
Patients with OI type 3
|
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.
|
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).
|
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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).
|
up to 1 month (after inclusion)
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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).
|
Up to 1 month (after inclusion)
|
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. |
Up to 1 month (after inclusion)
|
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.
|
Up to 1 month (after inclusion)
|
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.
|
Up to 1 month (after inclusion)
|
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.
|
Up to 1 month (after inclusion)
|
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.
|
Up to 1 month (after inclusion)
|
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. |
Up to 1 month (after inclusion)
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 69HCL19_0021
- 2019-A00521-56 (Other Identifier: ID-RCB)
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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