miROIEpigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
Blood sample
Bone Diseases+7
+ Bone Diseases, Developmental
+ Collagen Diseases
Other Study
Summary
Study start date: October 3, 2019
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.66 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Other Study
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Over 18 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
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
Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.3 intervention groups are designated in this study
This study does not include a placebo group
Treatment Groups
Group I
ExperimentalGroup II
ExperimentalGroup III
Active ComparatorStudy Objectives
Primary Objectives
Secondary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location