Characteristics of Andersen-Tawil Syndrome

Completed

Conditions studied: Andersen-Tawil Syndrome, Andersen Syndrome

In brief

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.

Key facts

Study ID

NCT00521794

Run by

University of Rochester

People needed

28

Starts

2007-11-01

Expected to finish

2012-10-01

Last updated by the study team

2013-01-16

Who can join

Age: 10 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Clinically confirmed diagnosis of ATS as defined by at least two of the following three 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--
• Meets one of the above three criteria and has at least one family member with two of the criteria --OR--
• Does not meet the above three criteria, but possesses a mutation in the KCNJ2 gene

You may not qualify if…

• Less than 10 years of age

Where it is running

• University of California, San Francisco — San Francisco, California, United States
• University of Kansas Medical Center — Kansas City, Kansas, United States
• University of Rochester School of Medicine and Dentistry — Rochester, New York, United States
• University of Texas Southwestern Medical Center — Dallas, Texas, United States
• London Health Sciences Centre — London, Ontario, Canada
• University of Milan — Milan, Italy
• Institute of Neurology and National Hospital for Neurology — London, United Kingdom

Full record on ClinicalTrials.gov

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