Andersen-Tawil SyndromeNCT00521794
Characteristics of Andersen-Tawil Syndrome
An observational study of Andersen-Tawil Syndrome and Andersen Syndrome, run by University of Rochester at 7 sites in 4 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Andersen-Tawil Syndrome, Andersen Syndrome
- How many people
- 28 participants
- Where
- 7 sitesin 4 countries
- Study dates
- Nov 2007to Oct 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Less than 10 years of age
Trial locations and contacts
7 sites in 4 countries.
7 sites in 4 countries
United States4 sites
University of Texas Southwestern Medical Center
Dallas, Texas, 75390
University of Kansas Medical Center
Kansas City, Kansas, 66160
University of Rochester School of Medicine and Dentistry
Rochester, New York, 14642
University of California, San Francisco
San Francisco, California, 94143
United Kingdom1 site
Institute of Neurology and National Hospital for Neurology
London
About this study
Official title: Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
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.
Read the 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.
- Conditions
- Andersen-Tawil Syndrome, Andersen Syndrome
- Keywords
- Arrhythmia, Muscle Weakness, Periodic Paralysis, Channelopathy
- Medical subject headings
- Andersen Syndrome, Arrhythmias, Cardiac, Muscle Weakness, Channelopathies
What is being measured
The primary outcome is the main question the study is designed to answer.
Collect prospective standardized data from participants to help better define the clinical phenotype of ATS.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2007 (estimated)
- Study startNov 2007
- Primary completionOct 2012
- Study completionOct 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Andersen-Tawil SyndromeStudies of the same condition, open and under way.
- More trials run by University of RochesterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, National Center for Research Resources (NCRR)
- Responsible party
- Principal investigator, Robert Griggs, MD, University of Rochester
- Investigators
- Emma Ciafaloni, MD, Study chair, University of RochesterRobert C. Griggs, MD, Principal investigator, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00521794
- Sponsor's protocol ID
- RDCRN 5301
- Other IDs
- 5U54RR019482-02
- Status last verified
- Jan 2013
- First submitted
- 24 Aug 2007
- Last updated
- 16 Jan 2013
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 8080508Sansone 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.
PubMed 9307251Tristani-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.
PubMed 12163457
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
- ClinicalTrials.gov ID
- NCT00521794
- Acronym / sponsor ID
- RDCRN 5301
- Conditions
- Andersen-Tawil Syndrome, Andersen Syndrome
- Keywords
- Arrhythmia, Muscle Weakness, Periodic Paralysis, Channelopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, National Center for Research Resources (NCRR)
- Study start
- Nov 2007
- Primary completion
- Oct 2012 (actual)
- Study completion
- Oct 2012 (actual)
- First posted
- 28 Aug 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (6 listed)
- Clinically confirmed diagnosis of ATS as defined by at least two of the following three criteria:
- 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
Key exclusion criteria (1 listed)
- Less than 10 years of age
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Collect prospective standardized data from participants to help better define the clinical phenotype of ATS.
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2013.
- Background: PubMed 8080508Tawil 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.
- Background: PubMed 9307251Sansone 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.
- Background: PubMed 12163457Tristani-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.
Related trials for Andersen-Tawil Syndrome
Not yet recruitingPhase 2
N-of-1 in ATS and MEPPC
Andersen Tawil Syndrome, Multifocal Ectopic Purkinje-related Premature Contractions
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emma Ciafaloni, MD study chair
University of Rochester
Robert C. Griggs, MD principal investigator
University of Rochester
7 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Andersen-Tawil Syndrome and Andersen Syndrome, run by University of Rochester at 7 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Jan 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Canada, Italy, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collect prospective standardized data from participants to help better define the clinical phenotype of ATS. (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00521794, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jan 2013.