Identification of Carnitine-Responsive Cardiomyopathy
Status:
Unknown status
Trial end date:
2016-12-01
Target enrollment:
Participant gender:
Summary
There are some adults with skeletal muscle weakness (called "myopathy") and heart muscle
weakness (called "cardiomyopathy") who have low blood levels of a compound called carnitine
as a cause of their problems. Carnitine is very important to energy production in muscles. In
fact, there are reports of some people with carnitine deficiency who have developed myopathy
and cardiomyopathy that was completely reversed with carnitine treatment. The main objective
of our project is to determine the number of patients who have carnitine deficiency as a
cause of their myopathy and cardiomyopathy. The investigators will be measuring carnitine
levels in 1000 patients with cardiomyopathy and will describe the specific features in all
the study patients to see if there are any trends that may help us predict which patients
with muscle weakness are at risk of developing low carnitine levels. The investigators will
be treating patients with low carnitine levels with carnitine and observing them to see if
their cardiomyopathy and their muscle weakness improve. Knowing the exact percentage of
myopathy and cardiomyopathy patients with carnitine deficiency may allow for screening of
patients in a cheap and targeted way to treat the serious complication of this condition,
including heart failure and sudden death.