Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 104
- 试验地点
- 1
- 主要终点
- blood expression level of micro-RNA miR-1
研究概览
简要总结
The study aims to find out if a specific blood molecule called miR-1, can be used as a biomarker to track the health of patients with certain muscle diseases.
MicroRNAs (miRs) are small messengers that help control how cells grow and stay healthy. Some of these, like miR-1, are specifically found in muscles and the heart. Research shows that levels of miR-1 are often abnormal in people with muscle-wasting conditions, but more information are needed to understand how this relates to the severity of the disease.
The main goal is to compare the blood levels of miR-1 between four different groups at different ages and severities:
- Patients with Duchenne or Becker muscular dystrophy (DMD/DMB).
- Patients with Myotonic Dystrophy Type 1 (Steinert's disease).
- Patients with congenital myopathies.
- Healthy volunteers (control group). The main objective is to assess if miR-1 levels can accurately show how a muscular disease is progressing.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age: Participants must be older than 2 years of age
- •Consent: Participants (or their legal guardians) must provide free and informed consent,. For children, the consent is oral for those under 6 years old and written for those over 6,.
- •Social Security: Every participant must be affiliated with the French social security system.
- •Participants must have a diagnosed neuromuscular pathology : the eligible pathologies are Myotonic Dystrophy Type 1 (DM1 or Steinert's disease), Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMB), or congenital myopathies or are healthy participants.
排除标准
- •Refusal to participate expressed by the subject or their parental authority.
- •Engaging in intense and unusual physical effort within 10 days before the blood draw.
- •Current use of any treatment with systemic, muscular, or cardiac effects that could interfere with the study's biological results.
- •Subjects or their legal guardians who are under tutelage, curatorship, deprived of liberty, or under judicial protection.
- •Women who are pregnant or breastfeeding.
- •The presence of an additional pathology that, in the judgment of the clinician, could interfere with the biological findings
研究组 & 干预措施
study group
干预措施: dosage of blood biomarker miR1 (Diagnostic Test)
结局指标
主要结局
blood expression level of micro-RNA miR-1
时间窗: at a unique time of enrollment
The main goal is to evaluate the interest of miR-1 as a blood biomarker for neuromuscular diseases, specifically muscular dystrophies and congenital myopathies.
次要结局
- Demographic Correlations(at a unique time of enrollment)
- Severity correlation(at a unique time of enrollment)