Carnitine DeficiencyPhase 4C001NCT01904396
Identification of Carnitine-Responsive Cardiomyopathy
A Phase 4 study testing Carnitine in people with Carnitine Deficiency, run by University Health Network, Toronto at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Carnitine Deficiency
- What is being tested?
- Carnitine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteCanada
- Study dates
- Aug 2013to Dec 2016
- Phase
- Phase 4
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- An adult patient (>18 years) with a diagnosis of either hypertrophic or dilated cardiomyopathy, for which the underlying etiology of the cardiomyopathy is unknown.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Hanna Faghfoury contact
About this study
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.
Read the 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:
- 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
- To describe the demographic and phenotypic characteristics of patients with myopathy and dilated or hypertrophic cardiomyopathy who have primary and secondary carnitine deficiency
- To measure the motor and cardiovascular response to carnitine supplementation in patients with myopathy, cardiomyopathy and carnitine deficiency
- Conditions
- Carnitine Deficiency
- Being tested
- Carnitine
- Medical subject headings
- Systemic carnitine deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CarnitineDrug
Also called Carnitor
Patients who are found to be carnitine deficient will be started on carnitine replacement and their heart function will be monitored on carnitine.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Carnitine |
What is being measured
The primary outcome is the main question the study is designed to answer.
Serum Carnitine Concentration
Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.
Measured: Baseline
Secondary outcomes (2)
Echocardiographic Measures
Measurements include:
Septal diameter Left Ventricular (LV) mass LV ejection fraction LV end-systolic volume LV end-diastolic measure
Measured: 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.
Measured: Baseline, every 6m for up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2013 (estimated)
- Study startAug 2013
- Primary completionAug 2016 (estimated)
- Study completionDec 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Carnitine DeficiencyStudies of the same condition, open and under way.
- More trials run by University Health Network, TorontoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 4
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Health Network, Toronto
- Sponsor type
- University, hospital or other
- Collaborators
- The Physicians' Services Incorporated Foundation
- Responsible party
- Principal investigator, Hanna Faghfoury, University Health Network, Toronto
- Investigators
- Faghfoury Hannaneh, MD, Principal investigator, University Health Network, TorontoIngrid Tein, MD, Principal investigator, The Hospital for Sick Children, Toronto, Ontario
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01904396
- Sponsor's protocol ID
- Carnitine001
- Acronym
- C001
- Status last verified
- Jul 2013
- First submitted
- 15 Jul 2013
- Last updated
- 22 Jul 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jul 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness.
- ClinicalTrials.gov ID
- NCT01904396
- Acronym / sponsor ID
- C001 / Carnitine001
- Conditions
- Carnitine Deficiency
- Phase
- Phase 4
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University Health Network, TorontoUniversity, hospital or other
- Collaborators
- The Physicians' Services Incorporated Foundation
- Study start
- Aug 2013
- Primary completion
- Aug 2016 (estimated)
- Study completion
- Dec 2016 (estimated)
- First posted
- 22 Jul 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
- To describe the demographic and phenotypic characteristics of patients with myopathy and dilated or hypertrophic cardiomyopathy who have primary and secondary carnitine deficiency
- To measure the motor and cardiovascular response to carnitine supplementation in patients with myopathy, cardiomyopathy and carnitine deficiency
Study design
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CarnitineDeficient | Experimental | Drug: CarnitinePatients identified with primary and secondary carnitine deficiency in the cardiomyopathy population will be prescribed with carnitine supplements to assess cardiac muscle function and status. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- An adult patient (>18 years) with a diagnosis of either hypertrophic or dilated cardiomyopathy, for which the underlying etiology of the cardiomyopathy is unknown.
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| CarnitineAlso: CarnitorPatients who are found to be carnitine deficient will be started on carnitine replacement and their heart function will be monitored on carnitine. | Drug | CarnitineDeficient |
Primary outcome
Serum Carnitine Concentration
Time frame: Baseline
Measurement of free and total serum carnitine concentrations will be performed using isotope-dilution mass spectrometry.
2 secondary outcomes
Echocardiographic Measures
Time frame: Baseline, every 6m for up to 2 years
B-Natriuretic Peptide (BNP)
Time frame: Baseline, every 6m for up to 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jul 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Hanna Faghfoury contact
Faghfoury Hannaneh, MD principal investigator
University Health Network, Toronto
Ingrid Tein, MD principal investigator
The Hospital for Sick Children, Toronto, Ontario
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 4 study testing Carnitine in people with Carnitine Deficiency, run by University Health Network, Toronto at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 22 Jul 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 4 studies take place after a treatment is approved, to learn more about its long-term benefits and risks in everyday use.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Hanna Faghfoury (hanna.faghfoury@uhn.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Serum Carnitine Concentration (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jul 2013.