Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study (miROI)

  • End date
    May 2, 2023
  • participants needed
  • sponsor
    Hospices Civils de Lyon
Updated on 24 March 2022
bone disease
autosomal dominant
genetic disorder


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.

Condition Osteogenesis Imperfecta
Treatment Blood sample
Clinical Study IdentifierNCT04009733
SponsorHospices Civils de Lyon
Last Modified on24 March 2022


Yes No Not Sure

Inclusion Criteria

Control population
Male or female
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
Clear my responses

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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