Cross-sectional Study to Evaluate the Frequency of Dysferlinopathy Carriers in the Caucasian Population Using a Test for Detecting the Dysferlin Protein in Peripheral Blood Monocytes.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 149
- 试验地点
- 1
- 主要终点
- Dysferlin Expression Levels by age and gender
研究概览
简要总结
The objective of the study is to answer the following important questions. Deficiency of the dysferlin protein is the cause of a very rare limb-girdle muscular dystrophy (LGMD-2B) that leads to significant disability. This disease is caused by mutations in the dysferlin gene. It is a recessive inherited disease, meaning that both copies of the gene must have mutations for the disease to develop. This study aims to analyze the frequency of carriers of a mutation in the DYSF gene in the Caucasian population. To achieve this, The investigator analyzed the blood of 100 healthy volunteers from their local area, quantifying the dysferlin protein in peripheral blood monocytes.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Individuals diagnosed with dysferlinopathies.
- •Carriers of a single mutation in the DYSF gene.
- •Participants who are willing to undergo treatment with oral vitamin D
- •Subjects who can provide informed consent for participation in the study.
- •Controls and carriers willing to participate in in vitro studies using HL60 cells, monocytes, and myotubes.
排除标准
- •Individuals with conditions or medications that could interfere with the study outcomes of dysferlin expression.
- •Participants who are unwilling or unable to adhere to the study protocol for the duration of the study period.
- •Pregnant or breastfeeding women.
- •Individuals with known allergies or adverse reactions to vitamin D3 supplements.
- •Subjects with severe concurrent illnesses that may impact the study's objectives or their ability to participate effectively.
结局指标
主要结局
Dysferlin Expression Levels by age and gender
时间窗: 1 month
Dysferlin expresion lels in monocytes by western blotting
次要结局
- Identification of Carries by Protein Level(1 month)
- Percentage of Predicted Carriers Showing Specific Genetic Mutations(1 month)
- Percentage of DNA Methylation in Target Gene(1 month)