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NCT Number: NCT04009733

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

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.

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Key information

Conditions

Osteogenesis Imperfecta Bone Diseases Bone Diseases, Developmental Collagen Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Musculoskeletal Diseases Osteochondrodysplasias Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Edouard Herriot

Lyon, 69003, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sample

Biological

A study specific blood sample will be collected.

Primary outcomes

  1. micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population

    Time frame: up to 1 month (after inclusion)

    Identification of specific miRs expressed in the serum of OI patients using NGS (Next Generation Sequencing).

Secondary outcomes

  1. Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )

    Time frame: Up to 1 month (after inclusion)

    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).

  2. Level of expression of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )

    Time frame: Up to 1 month (after inclusion)

    The objective is to validate expression of miRs identified by NGS (Next Generation Sequencing) in blood samples of patients from 3 groups: an Osteogenesis imperfecta (OI) type 1 cohort and an OI type 3 cohort, recruited for the study, and a pre-existing group of control patients (issued from cohorts OFELY and MODAM for women, STRAMBO for men).

    Expression of the significant miRs identified by NGS will be measured by Reverse Transcription Quantitative Polymerase Chain Reaction (RT-qPCR) and then these results will be compared with same analysis on blood samples of control patients.

  3. Presence of fracture

    Time frame: Up to 1 month (after inclusion)

    Severity of OI will be evaluated using radiological data (fracture) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis.

  4. Presence of biochemical markers of bone turnover in blood

    Time frame: Up to 1 month (after inclusion)

    Severity of OI will be evaluated using biological data (biochemical markers of bone turnover) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis.

  5. Bone pain

    Time frame: Up to 1 month (after inclusion)

    Severity of OI will be evaluated using clinical data (bone pain mesured on Visual Analogue Scale) extracted from patients' medical records. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis.

  6. Quality of life

    Time frame: Up to 1 month (after inclusion)

    Investigators will use a specific questionnaire completed by a rheumatologist at inclusion to obtain more information about a patient's lifestyle. The higher the score the more severe the disease impact and vice versa. Association between expression of miRs in patients with OI with the severity of the disease will be studied by statistical analysis.

  7. Assessment of environmental factors

    Time frame: Up to 1 month (after inclusion)

    The investigating team will use information extracted from patients' medical records to obtain environmental information, which includes using a specific questionnaire completed by a rheumatologist with patients at inclusion.

    Association between expression of miRs in patients with OI with the environmental data will be studied by statistics analysis.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Acronym: miROI

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Jul 5, 2019
Registry last updated
Sep 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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