Osteogenesis ImperfectamiROINCT04009733
Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
A study testing Blood sample in people with Osteogenesis Imperfecta, run by Hospices Civils de Lyon at 1 site in France.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Osteogenesis Imperfecta
- What is being tested?
- Blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 66 participants
- Where
- 1 siteFrance
- Study dates
- 3 Oct 2019to 24 Apr 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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)
Show all 13Show fewer
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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).
Read more
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.
- Conditions
- Osteogenesis Imperfecta
- Being tested
- Blood sample
- Keywords
- Osteogenesis imperfecta, micro Ribonucleic acids, epigenetics
- Medical subject headings
- Osteogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
A study specific blood sample will be collected.
Blood sampleBiological
Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study.
| Study group | Role | What they receive |
|---|---|---|
| Osteogenesis imperfecta type 1 | Experimental | Patients with OI type 1 Receives: Biological: Blood sample |
| Osteogenesis imperfecta type 3 | Experimental | Patients with OI type 3 Receives: Biological: Blood sample |
| 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). Receives: Biological: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: up to 1 month (after inclusion)
Secondary outcomes (7)
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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Up to 1 month (after inclusion)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2019
- Study start3 Oct 2019
- Primary completion24 Apr 2022
- Study completion24 Apr 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Osteogenesis ImperfectaStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 66 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Roland CHAPURLAT, PhD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04009733
- Sponsor's protocol ID
- 69HCL19_0021
- Other IDs
- 2019-A00521-56
- Acronym
- miROI
- Status last verified
- May 2023
- First submitted
- 28 Jun 2019
- Last updated
- 4 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 37715362
Study at a glance
From the registry record, last updated by the sponsor on 4 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
- ClinicalTrials.gov ID
- NCT04009733
- Acronym / sponsor ID
- miROI / 69HCL19_0021
- Conditions
- Osteogenesis Imperfecta
- Keywords
- Osteogenesis imperfecta, micro Ribonucleic acids, epigenetics
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 66 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 3 Oct 2019 (actual)
- Primary completion
- 24 Apr 2022 (actual)
- Study completion
- 24 Apr 2022 (actual)
- First posted
- 5 Jul 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Osteogenesis imperfecta type 1 | Experimental | Biological: Blood samplePatients with OI type 1 |
| Osteogenesis imperfecta type 3 | Experimental | Biological: Blood samplePatients with OI type 3 |
| Control population | Active comparator | Biological: Blood sampleThe control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- Male or female
- 18 years old and over
- Be part of cohorts STRAMBO, OFELY or MODAM
- Male or female ≥18 years old
- Have COL1A1 or COL1A2 mutation
Key exclusion criteria (13 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampleA study specific blood sample will be collected. | Biological | Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 3 |
| Blood samplePre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study. | Biological | Control population |
Primary outcome
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).
7 secondary outcomes
Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )
Time frame: 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)
Presence of fracture
Time frame: Up to 1 month (after inclusion)
Presence of biochemical markers of bone turnover in blood
Time frame: Up to 1 month (after inclusion)
Bone pain
Time frame: Up to 1 month (after inclusion)
Quality of life
Time frame: Up to 1 month (after inclusion)
Assessment of environmental factors
Time frame: Up to 1 month (after inclusion)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Sep 2025.
- Results publication: PubMed 37715362Mercier-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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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Roland CHAPURLAT, PhD principal investigator
Hospices Civils de Lyon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample in people with Osteogenesis Imperfecta, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04009733, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Sep 2025.