Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

NCT04009733 | Completed

• 2 other identifiers: 69HCL19_00212019-A00521-56
• Study Type: interventional
• Target: 66
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Osteogenesis imperfecta; micro Ribonucleic acids; epigenetics

Outcome Measures

Primary Outcomes (1)

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

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

  up to 1 month (after inclusion)

Secondary Outcomes (7)

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

  Up to 1 month (after inclusion)

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

  Up to 1 month (after inclusion)

• Presence of fracture

  Up to 1 month (after inclusion)

• Presence of biochemical markers of bone turnover in blood

  Up to 1 month (after inclusion)

• Bone pain

  Up to 1 month (after inclusion)

Study Arms (3)

Osteogenesis imperfecta type 1

EXPERIMENTAL

Patients with OI type 1

Biological: Blood sample

Osteogenesis imperfecta type 3

EXPERIMENTAL

Patients with OI type 3

Biological: Blood sample

Control population

ACTIVE COMPARATOR

The control population corresponds to a pre-existing serum collection of osteoarthritis cohorts (OFELY and MODAM for women, STRAMBO for men).

Biological: Blood sample

Interventions

Blood sample BIOLOGICAL

A study specific blood sample will be collected.

Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 3

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hôpital Edouard Herriot

Lyon, 69003, France

Location

Related Publications (1)

• Mercier-Guery A, Millet M, Merle B, Collet C, Bagouet F, Borel O, Sornay-Rendu E, Szulc P, Vignot E, Gensburger D, Fontanges E, Croset M, Chapurlat R. Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study. J Bone Miner Res. 2023 Nov;38(11):1665-1678. doi: 10.1002/jbmr.4912. Epub 2023 Oct 2.

  PMID: 37715362 RESULT

MeSH Terms

Conditions

Osteogenesis Imperfecta

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Roland CHAPURLAT, PhD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 28, 2019
• First Posted: July 5, 2019
• Study Start: October 3, 2019
• Primary Completion: April 24, 2022
• Study Completion: April 24, 2022
• Last Updated: September 4, 2025

Record last verified: 2023-05

Locations

FR (1)