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Characteristics of Andersen-Tawil Syndrome

NCT00521794 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 28

Last updated 2013-01-16

No results posted yet for this study

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.

Conditions

  • Andersen-Tawil Syndrome
  • Andersen Syndrome

Sponsors & Collaborators

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • National Center for Research Resources (NCRR)

    collaborator NIH

  • University of Rochester

    lead OTHER

Principal Investigators

  • Emma Ciafaloni, MD · University of Rochester

  • Robert C. Griggs, MD · University of Rochester

Eligibility

Min Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-11-30
Primary Completion
2012-10-31
Completion
2012-10-31

Countries

  • United States
  • Canada
  • Italy
  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00521794 on ClinicalTrials.gov