Active clinical trials for "Andersen Syndrome"

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Andersen-Tawil Syndrome (ATS) is a rare genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and skeletal developmental abnormalities. The cause of some ATS cases remains unknown, and no specific treatments have been established. The purpose of this study is to determine whether potassium supplements and/or the medication acetazolamide affect the duration of muscle weakness and heart rhythm abnormalities in people with ATS.

Andersen-Tawil Syndrome (ATS) is a rare, genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and developmental abnormalities. Disease symptoms can vary, the cause of some ATS cases remains unknown, and no specific treatment has been identified. The purpose of this multi-site study is to better characterize ATS, establish whether symptoms change over time, and determine if symptoms are related to a mutation in the KCNJ2 gene.