Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

66 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-10-03

Study Completion Date

2022-04-24

Brief Summary

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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

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Conditions

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Osteogenesis Imperfecta

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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Osteogenesis imperfecta type 1

Patients with OI type 1

Group Type EXPERIMENTAL

Blood sample

Intervention Type BIOLOGICAL

A study specific blood sample will be collected.

Osteogenesis imperfecta type 3

Patients with OI type 3

Group Type EXPERIMENTAL

Blood sample

Intervention Type BIOLOGICAL

A study specific blood sample will be collected.

Control population

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

Group Type ACTIVE_COMPARATOR

Blood sample

Intervention Type BIOLOGICAL

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

Interventions

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Blood sample

A study specific blood sample will be collected.

Intervention Type BIOLOGICAL

Blood sample

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

Intervention Type BIOLOGICAL

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No