Status:
TERMINATED
Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome
Lead Sponsor:
University of Rochester
Collaborating Sponsors:
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Conditions:
Andersen-Tawil Syndrome
Eligibility:
All Genders
10+ years
Phase:
PHASE1
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 skeletal developmental abnormalities. The ca...
Detailed Description
ATS is an ion channel disorder that causes episodes of muscle weakness and potentially life-threatening heart arrhythmias. The majority of ATS cases are caused by a mutation in the KCNJ2 gene, which i...
Eligibility Criteria
Inclusion
- Clinically confirmed diagnosis of Andersen-Tawil Syndrome, as defined by at least two of the following three features:
- Neuromuscular Feature
- Presence of clear-cut episodes of transient muscle weakness with or without a fixed deficit that is typical with rest after exertion or prolonged rest, OR
- An atypical history with specific exam findings (absent reflexes with normal sensation ictally), OR
- Unexplained intraictal hypokalemia, OR
- An abnormal nerve conduction exercise test
- Cardiac Feature
- Prolonged QTc interval on 12-lead electrocardiogram (ECG), according to standard criteria, AND/OR
- Ventricular ectopy, including uniform or multifocal PVCs, polymorphic VT, or bidirectional VT
- Physical Feature (at least two of the below five features)
- Low set ears
- Hypertelorism
- Small mandible
- Clinodactyly
- Syndactyly
- Micromelia of hands or feet
- OR-
- One of the three above criteria, with at leat one other family member meeting two criteria
- OR-
- Not meeting clinical criteria but possessing the KCNJ2 mutation
- An average frequency of at least one neuromuscular symptom (attack of weakness) per week
Exclusion
- Sulfa allergy
- Renal impairment, as defined by serum creatine greater than 1.5 mg/dl
- History of renal calculi
- Cardiac disease or other disease that would make potassium supplementation or acetazolamide treatment inadvisable
- Diabetes mellitus
- Currently taking quinidine
- Pregnant
Key Trial Info
Start Date :
December 1 2008
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
January 1 2011
Estimated Enrollment :
3 Patients enrolled
Trial Details
Trial ID
NCT00839501
Start Date
December 1 2008
End Date
January 1 2011
Last Update
January 20 2012
Active Locations (1)
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1
University of Rochester School of Medicine
Rochester, New York, United States, 14642