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NCT Number: NCT03838991

Epigenetic Regulation in Fibrous Dysplasia of Bone: mirDYS Study.

Fibrous dysplasia of bone is a rare congenital but non-hereditary disease caused by a post-zygotic activation mutation of the GNAS gene. Patients with fibrous dysplasia may present pain and bone complications (fractures, deformities..) related to their bone lesions.

For undetermined reasons, severity and disease evolution may vary considerably from patient to patient.

Epigenetic regulation could then be involved, including micro Ribonucleic Acids (miRs).

These small non-coding micro Ribonucleic Acids are involved in the regulation of major steps of cellular processes in different pathologies, in particular in bone diseases. However, micro Ribonucleic Acids have never been studied in fibrous dysplasia.

The aim of this study is to identify micro Ribonucleic Acids significantly associated with the severity of fibrous dysplasia.

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Key information

Conditions

Fibrous Dysplasia Of Bone Bone Diseases Bone Diseases, Developmental Musculoskeletal Diseases Osteochondrodysplasias

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Service de Rhumatologie & INSERM U1033, Pavillon F, Hopital Edouard Herriot

Lyon, 69437, France

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Control population :

  • men and women,
  • 18 years-old and over,
  • consulting a rheumatologist or an orthopedist for arthrosis
  • have scheduled surgery for hip or knee replacement surgery or any intervention involving the lower limb or upper limb.

Patients with Fibrous dysplasia:

  • men and women,
  • 18 years-old and over,
  • with a diagnosis of fibrous dysplasia previously established by a rheumatologist.

Exclusion criteria

  • Refusal to participate in the study
  • Long- term corticosteroids treatment (> 3 months)
  • Treated osteoporosis
  • Chronic inflammatory rheumatism (rheumatoid arthritis, psoriasic arthritis, spondyloarthropathy)
  • Collagen disease (osteogenesis imperfecta…)
  • Paget's disease, benign bone tumors
  • Uncontrolled hypo/hyper-thyroidism, hypo/hyper-parathryoidism
  • Severe renal impairment (GFR < 30 ml/min/1.73m2)
  • Cancer or bone metastases (current or in the past two years)
  • Paget disease, benign bone tumor (osteoid osteoma, enchondroma …)
  • Malabsorptive disease (Celiac disease, Whipple's disease, intestinal bypass, short bowel syndrome) and inflammatory bowel disease
  • Pregnant women or lactating
  • Psychiatric disorders
  • Difficulty in understanding French
  • Not a beneficiary of french social security
  • Patients protected by law

Treatment and study plan

blood sample

Other

A study specific blood sample will be collected.

Waste bone tissue

Other

For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery.

Primary outcomes

  1. Evaluation of micro Ribonucleic acids expression in the serum

    Time frame: At inclusion

    The objective is to identify specific microRibonucleic acids expressed in serum of patients using NGS (Next Generation Sequencing).

  2. Evaluation of micro Ribonucleic acids expression in the bone tissue

    Time frame: At inclusion

    The objective is to identify specific micro Ribonucleic acids expressed in bone tissue obtained from surgery (patients having a scheduled surgery for osteoarthritis or fibrous dysplasia) using NGS (Next Generation Sequencing)

Secondary outcomes

  1. Comparison of micro Ribonucleic acids expression

    Time frame: Time of realization of the analyzes, an average of 6 months

    The objective is to compare nature and level of expression of the micro Ribonucleic acids identify by NGS (Next Generation Sequencing) in bone tissue and serum between the 3 groups of subjects: monostotic Fibrous Dysplasia, polyostotic Fibrous Dysplasia and controls (controls are patients with osteoarthritis).

  2. Validation of micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in blood samples

    Time frame: Time of realization of the analyzes, an average of 6 months

    The objective is to validate expression of micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in blood samples of patients from 4 pre-existing cohorts : a fibrous dysplasia cohort (PERIOSDYS) and 3 cohorts of control patients (OFELY and MODAM for women, STRAMBO for men).

    For that the expression of the significant micro Ribonucleic acids identified by NGS (Next Generation Sequencing) in sera of patients with monostotic and polyostotic fibrous dysplasia versus control patients will be measured by RT-qPCR (Reverse Transcription Quantitative Polymerase Chain Reaction) and then these results will be compared with same analysis on blood samples of patients from the 4 pre-existing cohorts.

  3. Association between micro Ribonucleic acids and severity of fibrous dysplasia.

    Time frame: Time of realization of the analyzes, an average of 6 months

    Association between expression of significant micro Ribonucleic acids in patients with fibrous dysplasia with the severity of the disease will be studied by statistics analysis.

    Severity of fibrous dysplasia will be evaluated with clinical, biological and radiological data extracted from patients' medical records (Easily software) and from the CEMARA database (fibrous dysplasia database).

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study.

Acronym: MirDYS

Important dates

Study start
2019
Primary completion
2023
Study completion
2023
First posted
Feb 12, 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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