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Identification of Carnitine-Responsive Cardiomyopathy (C001)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01904396
Recruitment Status : Unknown
Verified July 2013 by Hanna Faghfoury, University Health Network, Toronto.
Recruitment status was:  Not yet recruiting
First Posted : July 22, 2013
Last Update Posted : July 22, 2013
The Physicians' Services Incorporated Foundation
Information provided by (Responsible Party):
Hanna Faghfoury, 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.

Condition or disease Intervention/treatment Phase
Carnitine Deficiency Drug: Carnitine Phase 4

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

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Official Title: Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness.
Study Start Date : August 2013
Estimated Primary Completion Date : August 2016
Estimated Study Completion Date : December 2016

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 Name: Carnitor

Primary Outcome Measures :
  1. Serum Carnitine Concentration [ Time Frame: Baseline ]
    Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.

Secondary Outcome Measures :
  1. Echocardiographic Measures [ Time Frame: 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

  2. B-Natriuretic Peptide (BNP) [ Time Frame: 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01904396

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Contact: Hanna Faghfoury

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Canada, Ontario
University Health Network
Toronto, Ontario, Canada
Principal Investigator: Hanna Faghfoury, MD         
Sponsors and Collaborators
University Health Network, Toronto
The Physicians' Services Incorporated Foundation
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Principal Investigator: Faghfoury Hannaneh, MD University Health Network, Toronto, Ontario
Principal Investigator: Ingrid Tein, MD The Hospital for Sick Children, Toronto, Ontario
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Responsible Party: Hanna Faghfoury, Clinical and Metabolic Geneticist, University Health Network, Toronto Identifier: NCT01904396    
Other Study ID Numbers: Carnitine001
First Posted: July 22, 2013    Key Record Dates
Last Update Posted: July 22, 2013
Last Verified: July 2013
Additional relevant MeSH terms:
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Heart Diseases
Cardiovascular Diseases