Carnitine Deficiency Clinical Trial
Official title:
Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness.
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.
The primary objective of this research is to determine the prevalence of primary and
secondary (genetic and acquired) carnitine deficiency in patients with limb girdle weakness
and hypertrophic or idiopathic dilated cardiomyopathy where an underlying cause is unknown.
Identification and treatment with carnitine may potentially reverse or halt heart failure
and skeletal muscle weakness in these patients.
Specific aims:
1. To ascertain the prevalence of primary and secondary carnitine deficiency in a
population of adults with myopathy and hypertrophic and dilated cardiomyopathy of
unknown etiology
2. To describe the demographic and phenotypic characteristics of patients with myopathy
and dilated or hypertrophic cardiomyopathy who have primary and secondary carnitine
deficiency
3. To measure the motor and cardiovascular response to carnitine supplementation in
patients with myopathy, cardiomyopathy and carnitine deficiency
;
Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01783041 -
Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
|
Phase 2/Phase 3 |