Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Hospices Civils de Lyon66 enrolled

Overview

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 Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Osteogenesis Imperfecta

Interventions

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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).

Time frame: up to 1 month (after inclusion)

Secondary Outcomes

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).