Identification of Carnitine-Responsive Cardiomyopathy

Phase 4

• Conditions: Carnitine Deficiency
• Interventions: Drug: Carnitine

• Registration Number: NCT01904396
• Lead Sponsor: University Health Network, Toronto

Brief 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.

Detailed Description

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

Study Timeline

• Status Verified: 2013-07
• Study First Submitted: 2013-07-15
• Study First Submitted QC: 2013-07-17
• Last Update Submitted: 2013-07-17
• Study First Posted: 2013-07-22
• Last Update Posted: 2013-07-22
• Study Start: 2013-08
• Primary Completion: 2016-08
• Study Completion: 2016-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

• An adult patient (>18 years) with a diagnosis of either hypertrophic or dilated cardiomyopathy, for which the underlying etiology of the cardiomyopathy is unknown.

Exclusion Criteria

• A history of ischemia
• A documented or suspected infection including HIV
• A history of severe longstanding hypertension
• A history of valvular heart disease
• A history of chemotherapy exposure
• A history of alcohol abuse
• Carnitine supplementation at the time of recruitment

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
CarnitineDeficient	Carnitine	Patients identified with primary and secondary carnitine deficiency in the cardiomyopathy population will be prescribed with carnitine supplements to assess cardiac muscle function and status.

Primary Outcome Measures

Name	Time	Method
Serum Carnitine Concentration	Baseline	Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.

Secondary Outcome Measures

Name	Time	Method
Echocardiographic Measures	Baseline, every 6m for up to 2 years	Measurements include: Septal diameter Left Ventricular (LV) mass LV ejection fraction LV end-systolic volume LV end-diastolic measure
B-Natriuretic Peptide (BNP)	Baseline, every 6m for up to 2 years	An elevated BNP level is a marker of increased LV filling pressures and LV dysfunction and is highly correlated with severity of, and prognosis in, heart failure. BNP testing is routinely performed at the cardiac clinic at University Health Network to determine treatment response and to assist with risk stratification prognostication in patients with heart failure.

Trial Locations

Locations (1)

University Health Network; 🇨🇦 Toronto, Ontario, Canada