Identification of Carnitine-Responsive Cardiomyopathy (C001)

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.

Study Overview

• Status: Unknown
• Conditions: Carnitine Deficiency
• Intervention / Treatment: Drug: Carnitine

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 Type: Interventional
• Enrollment (Anticipated): 30
• Phase: Phase 4

Contacts and Locations

• Study Contact: Name: Hanna Faghfoury; Email: hanna.faghfoury@uhn.ca

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada
      • University Health Network
      • Principal Investigator: Hanna Faghfoury, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: CarnitineDeficient; 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.	Drug: Carnitine; Patients who are found to be carnitine deficient will be started on carnitine replacement and their heart function will be monitored on carnitine.; Other Names: Carnitor

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Serum Carnitine Concentration	Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Echocardiographic Measures	Measurements include: Septal diameter Left Ventricular (LV) mass LV ejection fraction LV end-systolic volume LV end-diastolic measure	Baseline, every 6m for up to 2 years
B-Natriuretic Peptide (BNP)	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.	Baseline, every 6m for up to 2 years

Collaborators and Investigators

• Sponsor: University Health Network, Toronto
• Collaborators: The Physicians' Services Incorporated Foundation
• Investigators: Principal Investigator: Faghfoury Hannaneh, MD, University Health Network, Toronto, Ontario; Principal Investigator: Ingrid Tein, MD, The Hospital for Sick Children, Toronto, Ontario

Study record dates

Study Major Dates

• Study Start: August 1, 2013
• Primary Completion (Anticipated): August 1, 2016
• Study Completion (Anticipated): December 1, 2016

Study Registration Dates

• First Submitted: July 15, 2013
• First Submitted That Met QC Criteria: July 17, 2013
• First Posted (Estimate): July 22, 2013

Study Record Updates

• Last Update Posted (Estimate): July 22, 2013
• Last Update Submitted That Met QC Criteria: July 17, 2013
• Last Verified: July 1, 2013

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Cardiomyopathies
• Other Study ID Numbers: Carnitine001