NCT04009733

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 66 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Osteogenesis Imperfecta

Interventions

Type	Name	Description
BIOLOGICAL	Blood sample	A study specific blood sample will be collected.
BIOLOGICAL	Blood sample	Pre-collected serum of cohort OFELY and MODAM for women, STRAMBO for men will be used for the study.

Timeline

• Start date: 2019-10-03
• Primary completion: 2022-04-24
• Completion: 2022-04-24
• First posted: 2019-07-05
• Last updated: 2025-09-04

Locations

1 site across 1 country: France