A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- PFGE-based Southern blotting
研究概览
简要总结
The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.
详细描述
The China FSHD1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed FSHD1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Male or female subjects of all ages at baseline
- •Subjects, with or without symptoms, with FSHD1 genetic confirmation through PFGE-based Southern blotting
- •Unrelated healthy controls
排除标准
- •Decline to participate
- •Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Myotonic dystrophy)
- •Serious systemic illness (such as heart, liver, kidney disease or major mental illness)
结局指标
主要结局
PFGE-based Southern blotting
时间窗: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years
Genetic test of PFGE-based Southern blotting were performed for these clinical suspected FSHD1 patients on the basis of the family as a whole. Eligible participants were genetically confirmed patients who presented a contraction to 1-10 D4Z4 repeats with a 4qA-specific FSHD1-permissive haplotype.
The FSHD Clinical Score
时间窗: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years
The FSHD Clinical Score was used to define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), which was divided into six independent sections that assess the strength and the functionality of (I) facial muscles (scored from 0 to 2); (II) scapular girdle muscles (scored from 0 to 3); (III) upper limb muscles (scored from 0 to 2); (IV) distal leg muscles (scored from 0 to 2); (V) pelvic girdle muscles (scored from 0 to 5); and (VI) abdominal muscles (scored from 0 to 1).
次要结局
- The modified Medical Research Council (MRC) scale(From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years)
- The Comprehensive Clinical Evaluation Form (CCEF)(From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years)
研究者
Ning Wang, MD., PhD.
Professor
First Affiliated Hospital of Fujian Medical University