Retrospective Analysis of Clinical and Biochemical Features for the Identification of Dominant Inheritance of Calpainopathies
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 50
- 试验地点
- 2
- 主要终点
- Muscle biopsy
研究概览
简要总结
Mutations in the CAPN3 gene cause muscular dystrophies with dysfunction in calpain-3. Calpainopathies are usually inherited in an autosomal recessive manner but in some families they can occur in a dominant inheritance. The significance of heterozygous variants is difficult to interpret in the absence of family history. In this study, the investigators will review the clinical and laboratory information in a cohort of patients identified in the participating centers, with the aim of improving the diagnostic strategy of dominant calpainopathies.
详细描述
The investigators will review clinical and biomarker information in a cohort of 50 patients with heterozygous variants in the CAPN3 gene. Patients are referred by participating centers who will provide anonymised information on the clinical phenotype and laboratory test results. Suitable subjects will be contacted to obtain informed consent. Pseudonymised anamnestic data will be collected from the patient's clinical history and medical records.The aim is to identify a set of multidisciplinary data sufficient to define a diagnostic algorithm for the dominant calpainopathies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical LGMD phenotype, family history with dominant inheritance or sporadic cases, single variant in CAPN3, second variant excluded by MLPA (Multiplex Ligation Probe Amplification) or by analysis of mRNA extracted from muscle.
排除标准
- •No variants in CAPN3, two variants in CAPN3
结局指标
主要结局
Muscle biopsy
时间窗: through study completion, an average of 1 year
Evaluation of histology and calpain 3 expression (present, reduced, absent)
Creatin Kinase
时间窗: through study completion, an average of 1 year
Amount of creatine kinase in blood in units (U) of enzyme activity per liter (L) of serum
Muscle strenght
时间窗: through study completion, an average of 1 year
Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger)
Clinical history
时间窗: through study completion, an average of 1 year
Data collection sheet from clinical records
次要结局
未报告次要终点