Andersen-Tawil Syndrome Clinical Trial
Official title:
Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
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.
ATS is an ion channel disorder that causes episodes of muscle weakness and potentially
life-threatening heart arrhythmias for which no treatment has been identified. The majority
of ATS cases are caused by a mutation in the KCNJ2 gene; other cases result from unknown
causes. The KCNJ2 gene mutation alters potassium channels in such a way that it disrupts the
flow of potassium ions in skeletal and heart muscle. This can lead to the characteristic
periodic paralysis and irregular heart rhythms. The purpose of this study is to better
define the genetic basis, clinical features, and disease progression of ATS. The study will
also establish clinically relevant endpoints for use in future clinical studies.
This observational study will last 2 years and will involve three study visits. The first
visit will entail a 1.5- to 3.5-day inpatient stay; the length of stay will depend on
whether a participant has been taking medications for their symptoms of weakness.
Participants will be asked to discontinue use of such medications during the inpatient stay.
Participants will not be asked to stop any medications that they may be taking for heart
symptoms. This first study visit will include a medical history, a quality of life
questionnaire, a physical exam, and muscle strength testing. Nerve, muscle, and heart
activity will also be measured, and blood will be drawn for laboratory tests and optional
DNA analysis. The second and third study visits will take place 1 and 2 years after the
initial study visit and will include the same evaluations. During the 8 weeks following each
study visit, participants will record in a telephone diary any muscle and heart symptoms
that they experience. During the 1 week after both yearly visits, participants will also
undergo an outpatient heart rhythm evaluation. A study coordinator will contact participants
once a month by phone over the course of the study to review symptoms.
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Observational Model: Cohort, Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Terminated |
NCT00839501 -
Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome
|
Phase 1 |