Identification of Carnitine-Responsive Cardiomyopathy

NCT01904396 | Unknown Phase 4

• 1 other identifier: Carnitine001
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Carnitine Deficiency

Outcome Measures

Primary Outcomes (1)

• Serum Carnitine Concentration

  Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.

  Baseline

Secondary Outcomes (2)

• Echocardiographic Measures

  Baseline, every 6m for up to 2 years

• B-Natriuretic Peptide (BNP)

  Baseline, every 6m for up to 2 years

Study Arms (1)

CarnitineDeficient

EXPERIMENTAL

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

Interventions

Carnitine DRUG

Patients who are found to be carnitine deficient will be started on carnitine replacement and their heart function will be monitored on carnitine.

Also known as: Carnitor

CarnitineDeficient

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Health Network, Toronto: lead
• The Physicians' Services Incorporated Foundation: collaborator

Study Sites (1)

University Health Network

Toronto, Ontario, Canada

Location

MeSH Terms

Conditions

Systemic carnitine deficiency

Interventions

Carnitine

Intervention Hierarchy (Ancestors)

Trimethyl Ammonium Compounds; Quaternary Ammonium Compounds; Amines; Organic Chemicals

Study Officials

• Faghfoury Hannaneh, MD

  University Health Network, Toronto, Ontario

  PRINCIPAL INVESTIGATOR

• Ingrid Tein, MD

  The Hospital for Sick Children, Toronto, Ontario

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Hanna Faghfoury

CONTACT

hanna.faghfoury@uhn.ca

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical and Metabolic Geneticist

Study Record Dates

• First Submitted: July 15, 2013
• First Posted: July 22, 2013
• Study Start: August 1, 2013
• Primary Completion: August 1, 2016
• Study Completion: December 1, 2016
• Last Updated: July 22, 2013

Record last verified: 2013-07

Locations

CA (1)