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Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

NCT04009733 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 66

Last updated 2025-09-04

No results posted yet for this study

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

Interventions

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.

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Principal Investigators

  • Roland CHAPURLAT, PhD · Hospices Civils de Lyon

Study Design

Allocation
NON_RANDOMIZED
Purpose
OTHER
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-03
Primary Completion
2022-04-24
Completion
2022-04-24

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04009733 on ClinicalTrials.gov