CompletedNot Applicable

Characteristics of Andersen-Tawil Syndrome

United States, Canada28 participantsStarted 2007-11

Plain-language summary

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.

Who can participate

Age range10 Years

SexALL

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Inclusion criteria

✓. Presence of clear-cut episodes of transient muscle weakness with or without a fixed deficit, typically following exertion or prolonged rest OR atypical history with otherwise typical exam findings (absent reflexes with normal sensation during an episode) OR unexplained hypokalemia between episodes OR abnormal long-exercise nerve conduction study
✓. Heart conduction defects: prolonged QTc interval on 12-lead electrocardiogram OR ventricular ectopy, including uniform or multifocal PVCs, polymorphic VT, or bidirectional VT
✓. Presence of two or more of the following physical features: low set ears, hypertelorism, small mandible, clinodactyly, syndactyly, micromelia of hands or feet --OR--

What they're measuring

Collect prospective standardized data from participants to help better define the clinical phenotype of ATS.

Timeframe: 2 years

Trial details

NCT IDNCT00521794

SponsorUniversity of Rochester

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2012-10

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