Exploring Overlap Between Primary Cardiac Arrhythmias and Non-dystrophic Myotonia: a Single Center Prospective Study.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 570
- 主要终点
- Prevalence of variants of class 3,4 or 5 in the SCN4A gene and variants of class 3, 4 or 5 in het CLCN1 gene in patients presenting with PCA.
研究概览
简要总结
A prospective interventional single-center study will be conducted. The study includes clinically diagnosed Intramuros PCA-patients who underwent a PCA gene panel of 113 genes (see Appendix 1) in the UZ-Brussel since 2021. In a retrospective part of the study, we will assess cardiac history, cardiac family history, cardiac exams and medical treatment and genetic data and family history. The prevalence of a class 3, 4 or 5 variant in the SCN4A and CLCN1 gene in the PCA-group will be compared to controls who underwent genetic screening for different causes, in which no association with muscular channelopathies is expected, without access to their medical file. In a prospective part of the study, patients with PCA carrying a variant class 3,4 or 5 in the SCN4A gene or a variant class 3, 4 or 5 in the CLCN1 gene will be invited for a one day visit for an interview, clinical neurological assessment and EMG. The aim of this second phase is to describe the clinical presentation of patients with concomitant PCA and non-dystrophic myotonia .
详细描述
A prospective interventional single-center study will be conducted. The study includes clinically diagnosed Intramuros PCA-patients who underwent a PCA gene panel of 113 genes (see Appendix 1) in the UZ-Brussel since 2021.
Retrospective part:
The following retrospective data from the medical file will be analyzed:
- Informed consents signed before genetic analysis with PCA gene panel (Appendix 2).
- Assessment of cardiac history, cardiac family history, cardiac exams and medical treatment
- Assessment of genetic data and family history.
The PCA gene panel already contains the SCN4A gene since 2021. In case patients consented to scientific research or they consented to a wide genetic testing, additional genetic screening of the CLCN1 gene will be implemented. Those who did not consent previous to the PCA-gene panel analysis, will be contacted to sign a new informed consent if interested before additional screen-ing of the CLCN1 gene.
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
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with PCA who underwent a genetic analysis with a PCA gene panel since 2021 (since the panel involves 112 genes including SCN4A).
- •Male and female gender.
排除标准
- •Genetic analysis before 2021
- •Patients without cardiac screening in UZ Brussel
研究组 & 干预措施
Exploring overlap between primary cardiac arrhythmi-as and non-dystrophic myotonia: a single center
Patients with PCA carrying a variant class 3,4 or 5 in the SCN4A gene or a variant class 3, 4 or 5 in the CLCN1 gene will be invited by the department of Medical Genetics where they already have had a consultation, to the Neurology department for one visit on one day for the following as-sessments:
- Interview to assess the presence, onset and duration of myotonia or episodic weakness. Assessment of medical history, family history and medical treatment.
- Clinical neurological assessment for clinical myotonia.
- Electromyography (EMG) to detect the presence of myotonic discharges and using the Streib and Sun score for quantification(34).
- Short exercise test in case of myotonic discharges on nEMG.
- In case of a diagnosis of a muscular channelopathy, assessment with.a QoL scale.
干预措施: Electromyography (Diagnostic Test)
结局指标
主要结局
Prevalence of variants of class 3,4 or 5 in the SCN4A gene and variants of class 3, 4 or 5 in het CLCN1 gene in patients presenting with PCA.
时间窗: Day 1
the prevalence of variants of class 3,4 or 5 in the SCN4A gene and variants of class 3, 4 or 5 in het CLCN1 gene in patients presenting with PCA compared to a control group
Clinical presentation of NDMs in patients presenting with PCA and class 3,4 or 5 variants in SCN4A or CLCN1 gene.
时间窗: Day 1
the clinical presentation of NDMs in patients presenting with PCA and class 3,4 or 5 variants in SCN4A or CLCN1 gene.
Clinical presentation of NDMs in patients presenting with PCA and class 3,4 or 5 variants in SCN4A or CLCN1 gene.
时间窗: Day 1
the clinical presentation of NDMs in patients presenting with PCA and class 3,4 or 5 variants in SCN4A or CLCN1 gene.
Prevalence of variants of class 3,4 or 5 in the SCN4A gene and variants of class 3, 4 or 5 in het CLCN1 gene in patients presenting with PCA.
时间窗: Day 1
the prevalence of variants of class 3,4 or 5 in the SCN4A gene and variants of class 3, 4 or 5 in het CLCN1 gene in patients presenting with PCA compared to a control group
次要结局
未报告次要终点