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Clinical Studies

5305: Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome

Status: Not Yet Recruiting

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 muscle disorder. ATS affects skeletal and heart muscles. Doctors are doing this research to find out how potassium and acetazolamide work in people with ATS. The purpose of this study is to see if potassium or acetazolamide changes how long attacks of muscle weakness and heart problems last. The purpose of Trial I is to understand the role of potassium and the purpose of Trial II is to understand the role of acetazolamide in treatment.

About this Study

Over two 18 week periods, subjects will receive either placebo or medication in six, randomly assigned (like flipping a coin) 3 week blocks. By the end of the study, every subject will have received the same amount of medication or placebo. Subjects will be in the study for 45 weeks (about 11 months) and will have three visits. About 16 people with ATS will take part in this study at three hospitals in the United States and England. Subjects will be evaluated by the following:

History and Exam
Blood work
Heart Rhythm Testing (EKG)
Strength Testing
Telephone Diary
Health Survey
Telephone Contact

Targeted Enrollment:

To be eligible to participate, you must:

Meet two of the three criteria below (A-C) or one of three when other family members meet two of the three. Final diagnosis will depend on the presence or absence of KCNJ2 mutation.

Nerves/Muscles: clear cut periods of brief muscle weakness that is usual with rest following action or long periods of rest. An unusual history with specific exam findings or unexplained low potassium in the blood between periods of muscle weakness or an abnormal nerve exercise test.
Heart: abnormal electrical cycle in the heart and/or extra, abnormal heartbeats
Physical Features: presence of 2 or more of:

low set ears,
abnormal increased distance between two organs or body parts (usually between the eyes),
small jawbone,
bend or curve of the fifth fingers (little fingers) towards the fourth fingers (ring fingers),
two or more fingers or toes are fused together

Patients must have an average of at least one nerve and muscle symptom (attack of weakness) per week to take part in this study.

You are not eligible to participate if:

You are allergic to sulfa (acetazolamide is a sulfa by-product).
You have kidney failure, high serum creatinine (> 1.5 mg/dl).
You are pregnant.
You have a history of kidney stones.
You are under 10 years of age.
You are not able to follow study rules.
You have heart disease or other diseases that would make potassium or acetazolamide treatment not recommended.
You have diabetes.
You are currently taking quinidine

Join the Contact Registry for: Andersen-Tawil Syndrome