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Characteristics of Andersen-Tawil Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00521794
Recruitment Status : Completed
First Posted : August 28, 2007
Last Update Posted : January 16, 2013
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
National Center for Research Resources (NCRR)
Information provided by (Responsible Party):
Robert Griggs, MD, University of Rochester

Brief 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.

Condition or disease
Andersen-Tawil Syndrome Andersen Syndrome

Detailed Description:

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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Study Type : Observational
Actual Enrollment : 28 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
Study Start Date : November 2007
Actual Primary Completion Date : October 2012
Actual Study Completion Date : October 2012

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Collect prospective standardized data from participants to help better define the clinical phenotype of ATS. [ Time Frame: 2 years ]

Biospecimen Retention:   Samples With DNA
Blood samples

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a clinically confirmed diagnosis of Andersen-Tawil Syndrome (ATS) enrolled across seven sites in the United States, England, Italy and Canada

Inclusion Criteria:

  • Clinically confirmed diagnosis of ATS as defined by at least two of the following three criteria:

    1. 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
    2. Heart conduction defects: prolonged QTc interval on 12-lead electrocardiogram OR ventricular ectopy, including uniform or multifocal PVCs, polymorphic VT, or bidirectional VT
    3. 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

Exclusion Criteria:

  • Less than 10 years of age

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00521794

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United States, California
University of California, San Francisco
San Francisco, California, United States, 94143
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, New York
University of Rochester School of Medicine and Dentistry
Rochester, New York, United States, 14642
United States, Texas
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390
Canada, Ontario
London Health Sciences Centre
London, Ontario, Canada, N6A 5A5
University of Milan
Milan, Italy
United Kingdom
Institute of Neurology and National Hospital for Neurology
London, United Kingdom
Sponsors and Collaborators
University of Rochester
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
National Center for Research Resources (NCRR)
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Study Chair: Emma Ciafaloni, MD University of Rochester
Principal Investigator: Robert C. Griggs, MD University of Rochester
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Responsible Party: Robert Griggs, MD, Professor of Neurology, Medicine, Pediatrics, Pathology & Laboratory Medicine, and Center for Human Experimental Therapeutics, University of Rochester Identifier: NCT00521794    
Other Study ID Numbers: RDCRN 5301
5U54RR019482-02 ( U.S. NIH Grant/Contract )
First Posted: August 28, 2007    Key Record Dates
Last Update Posted: January 16, 2013
Last Verified: January 2013
Keywords provided by Robert Griggs, MD, University of Rochester:
Muscle Weakness
Periodic Paralysis
Additional relevant MeSH terms:
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Andersen Syndrome
Pathologic Processes
Long QT Syndrome
Arrhythmias, Cardiac
Heart Diseases
Cardiovascular Diseases
Cardiac Conduction System Disease
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities