Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 24
- 试验地点
- 2
- 主要终点
- Evaluation of micro Ribonucleic acids expression in the serum
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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
结局指标
主要结局
Evaluation of micro Ribonucleic acids expression in the serum
时间窗: At inclusion
The objective is to identify specific microRibonucleic acids expressed in serum of patients using NGS (Next Generation Sequencing).
Evaluation of micro Ribonucleic acids expression in the bone tissue
时间窗: 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)
次要结局
- Comparison of micro Ribonucleic acids expression(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 of realization of the analyzes, an average of 6 months)
- Association between micro Ribonucleic acids and severity of fibrous dysplasia.(Time of realization of the analyzes, an average of 6 months)