Clinical Research Directory
Browse clinical research sites, groups, and studies.
A Single Center Prospective Study in an Estimated 570 Patients Who Underwent Genetic Screening at UZ Brussel in the Context of a Primary Cardiac Arrhythmia. Patients Showing a Variant Class 3,4 or 5 in SCN4A or CLCN1 Will Undergo a Clinical and Electrophysiological Review After IC.
Sponsor: Universitair Ziekenhuis Brussel
Summary
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 .
Official title: Exploring Overlap Between Primary Cardiac Arrhythmias and Non-dystrophic Myotonia: a Single Center Prospective Study.
Key Details
Gender
All
Age Range
18 Years - 100 Years
Study Type
INTERVENTIONAL
Enrollment
570
Start Date
2025-12-15
Completion Date
2027-09-30
Last Updated
2025-12-01
Healthy Volunteers
No
Interventions
Electromyography
we will perform questionnaire, clinical neurological exam, nEMG and if applicable short exercise test on patients with variants in genes associated with mus-cular channelopathies. Safety Monitoring and reporting: Needle EMG is generally well-tolerated, but transient mild proce-dural pain and discomfort are widespread and the most frequent side effect that patients will ex-perience. Hematomas are infrequent and, in most cases, asymptomatic and selflimiting. Moreover, the bleeding risk is reduced by the investigator's experience, testing superficial muscles (avoiding complications like compartment syndrome), and by not conducting an EMG when patient is treated with anticoagulants. Infectious complications at the site of needle insertion are extremely infre-quent since disposable needle electrodes are used. Needle insertion is avoided in in-jured/potential infected skin and will not be performed in immune-compromised patients and endocarditis risk.