Epigenetic Regulation in Fibrous Dysplasia of Bone: mirDYS Study. (MirDYS)

January 3, 2023 updated by: Hospices Civils de Lyon

Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in 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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

29

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Lyon, France, 69437
        • Recruiting
        • Service de Rhumatologie & INSERM U1033, Pavillon F, Hopital Edouard Herriot
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Monostotic fibrous dysplasia
Patients with monostotic Fibrous dysplasia.
Other: Blood sample
A study specific blood sample will be collected.
Other: Waste bone tissue
For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery.
Experimental: Polyostotic fibrous dysplasia
Patients with polyostotic Fibrous dysplasia.
Other: Blood sample
A study specific blood sample will be collected.
Other: Waste bone tissue
For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery.
Active Comparator: Controls
Control patients having a scheduled surgery for osteoarthritis.
Other: Blood sample
A study specific blood sample will be collected.
Other: Waste bone tissue
For 3 patients of each group, patients having a scheduled surgery, a piece of waste bone tissue will be collected after surgery.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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).
At inclusion
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)
At inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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).
Time of realization of the analyzes, an average of 6 months
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.
Time of realization of the analyzes, an average of 6 months
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).
Time of realization of the analyzes, an average of 6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 10, 2019

Primary Completion (Anticipated)

February 10, 2025

Study Completion (Anticipated)

February 10, 2025

Study Registration Dates

First Submitted

February 6, 2019

First Submitted That Met QC Criteria

February 11, 2019

First Posted (Actual)

February 12, 2019

Study Record Updates

Last Update Posted (Estimate)

January 4, 2023

Last Update Submitted That Met QC Criteria

January 3, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 69HCL18_0443

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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