Characteristics of Andersen-Tawil Syndrome

NCT00521794 | Completed DMC

• 2 other identifiers: RDCRN 53015U54RR019482-02
• Study Type: observational
• Target: 28
• Locations: 4 countries
• Sites: 7

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.

Conditions

Andersen-Tawil Syndrome; Andersen Syndrome

Keywords

Arrhythmia; Muscle Weakness; Periodic Paralysis; Channelopathy

Outcome Measures

Primary Outcomes (1)

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

  2 years

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

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

Sponsors & Collaborators

• University of Rochester: lead
• Office of Rare Diseases (ORD): collaborator
• Rare Diseases Clinical Research Network: collaborator
• National Center for Research Resources (NCRR): collaborator

Study Sites (7)

University of California, San Francisco

San Francisco, California, 94143, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

University of Rochester School of Medicine and Dentistry

Rochester, New York, 14642, United States

Location

University of Texas Southwestern Medical Center

Dallas, Texas, 75390, United States

Location

London Health Sciences Centre

London, Ontario, N6A 5A5, Canada

Location

University of Milan

Milan, Italy

Location

Institute of Neurology and National Hospital for Neurology

London, United Kingdom

Location

Related Publications (3)

• Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 Mar;35(3):326-30. doi: 10.1002/ana.410350313.

  PMID: 8080508 BACKGROUND

• Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol. 1997 Sep;42(3):305-12. doi: 10.1002/ana.410420306.

  PMID: 9307251 BACKGROUND

• Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug;110(3):381-8. doi: 10.1172/JCI15183.

  PMID: 12163457 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Andersen Syndrome; Arrhythmias, Cardiac; Muscle Weakness; Channelopathies

Condition Hierarchy (Ancestors)

Long QT Syndrome; Heart Diseases; Cardiovascular Diseases; Cardiac Conduction System Disease; Heart Defects, Congenital; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms

Study Officials

• Emma Ciafaloni, MD

  University of Rochester

  STUDY CHAIR

• Robert C. Griggs, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology, Medicine, Pediatrics, Pathology & Laboratory Medicine, and Center for Human Experimental Therapeutics

Study Record Dates

• First Submitted: August 24, 2007
• First Posted: August 28, 2007
• Study Start: November 1, 2007
• Primary Completion: October 1, 2012
• Study Completion: October 1, 2012
• Last Updated: January 16, 2013

Record last verified: 2013-01

Locations

GB (1); IT (1); CA (1); US (4)