Clinical Studies
5301: Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
Status: Recruiting
Summary:
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Background
Andersen-Tawil Syndrome (ATS) is a rare, genetically-caused disease that causes episodes of weakness and potentially life-threatening heart arrhythmias. The purpose of this multi-center study is to collect data from volunteers with the disease in order to learn more about ATS, to find whether symptoms change over time, and to discover whether symptoms are related to the genetic mutation present in each individual.
About this Study
This will be an observational, three year, prospective study in 50 individuals with ATS. Seven centers in the United States, Canada and England will enroll participants. Those participating will be evaluated yearly for 3 consecutive years (total of 3 study visits). The initial visit will require a hospital admission of 1.5 - 3.5 days and the final two evaluations will be done on an outpatient basis. Participants will be evaluated by the following:
- history and physical exam
- blood tests
- muscle strength testing
- heart function testing (EKG, continuous heart monitoring)
- nerve conduction testing
- questionnaire to measure health status
- daily recording of episodes of weakness
Eligibility requirements:
To be eligible to participate:
- You are 10 years of age or older
- You have signed and dated the informed consent
- You have a confirmed diagnosis of ATS that includes:
- Having the KCNJ2 gene mutation OR
- Having 2 of the following 3 features
- Clear-cut episodes of periodic muscle weakness OR
Unexplained hypokalemia between episodes of weakness OR
Abnormal long-exercise nerve conduction study
- Heart conduction defects
- Presence of 2 or more characteristic physical features (low set ears, eyes set wide apart, small lower jaw, inner curving of the 5th finger, webbed or conjoined fingers/toes, small hands/feet)
OR
- Having 1 of the above 3 features AND an affected family member meeting 2 criteria
You are not eligible to participate if:
- You are under 10 years of age
- You are unable to stay in the hospital for 1.5 – 3.5 days and attend the other 2 scheduled clinic visits
- You are unable to give informed consent
How to Participate
! In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
- University of Rochester
Kimberly A. Hart, M.A.
Lead Health Project Coordinator
University of Rochester School of Medicine & Dentistry
Department of Neurology
1351 Mt. Hope Avenue, Suite 203
Rochester, NY 14620
Phone: 585-275-3767
E-mail: Kim_Hart@urmc.rochester.edu
- Institute of Neurology (IoN), London, UK
Sanjeev Rajakulendran, MD
E-mail: s.rajakulendran@ion.ucl.ac.uk
- University of Texas Southwestern
Medical Center, Dallas, TX
Nina F. Gorham, CCRP
Phone: 214-648-0462
E-mail: nina.gorham@utsouthwestern.edu
- University of Kansas Medical Center, Kansas City, KS
Laura Herbelin, BS
Phone: 913-588-5095
E-mail: Lherbelin@kumc.edu
- Harvard/Brigham and Womens Hospital, Boston, MA
Kristen Whiteside
Phone: 617-525-6763
E-mail: kwhiteside@partners.org
- University of California, San Fransisco, CA
Kristen Wong
Phone: 415.502.3976
E-mail: Kristin.Wong2@ucsf.edu
Join the Contact Registry for: Andersen-Tawil Syndrome
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