Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study - Clinical Trial for Osteogenesis Imperfecta | NCT04009733

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Primary Purpose

Status

Completed

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

Blood sample

About this trial

This is an interventional other trial for Osteogenesis Imperfecta focused on measuring Osteogenesis imperfecta, micro Ribonucleic acids, epigenetics

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Hôpital Edouard Herriot

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm Type

Experimental

Active Comparator

Arm Label

Osteogenesis imperfecta type 1

Osteogenesis imperfecta type 3

Control population

Arm Description

Patients with OI type 1

Patients with OI type 3

The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men).

Outcomes

Primary Outcome Measures

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).

Secondary Outcome Measures

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).

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.

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.

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.

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.

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.

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.

Full Information

NCT ID

NCT04009733

First Posted

June 28, 2019

Last Updated

May 5, 2023

Sponsor

Hospices Civils de Lyon

1. Study Identification

Unique Protocol Identification Number

NCT04009733

Brief Title

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Acronym

miROI

Official Title

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Study Type

Interventional

2. Study Status

Record Verification Date

May 2023

Overall Recruitment Status

Completed

Study Start Date

October 3, 2019 (Actual)

Primary Completion Date

April 24, 2022 (Actual)

Study Completion Date

April 24, 2022 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Hospices Civils de Lyon

4. Oversight

Studies a U.S. FDA-regulated Drug Product

No

Studies a U.S. FDA-regulated Device Product

No

Data Monitoring Committee

No

5. 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Osteogenesis Imperfecta

Keywords

Osteogenesis imperfecta, micro Ribonucleic acids, epigenetics

7. Study Design

Primary Purpose

Other

Study Phase

Not Applicable

Interventional Study Model

Parallel Assignment

Masking

None (Open Label)

Allocation

Non-Randomized

Enrollment

66 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Osteogenesis imperfecta type 1

Arm Type

Experimental

Arm Description

Patients with OI type 1

Arm Title

Osteogenesis imperfecta type 3

Arm Type

Experimental

Arm Description

Patients with OI type 3

Arm Title

Control population

Arm Type

Active Comparator

Arm Description

The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men).

Intervention Type

Biological

Intervention Name(s)

Blood sample

Intervention Description

A study specific blood sample will be collected.

Intervention Type

Biological

Intervention Name(s)

Blood sample

Intervention Description

Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study.

Primary Outcome Measure Information:

Title

micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population

Description

Identification of specific miRs expressed in the serum of OI patients using NGS (Next Generation Sequencing).

Time Frame

up to 1 month (after inclusion)

Secondary Outcome Measure Information:

Title

Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )

Description

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