7412: Survey on cardiovascular events in patients with metabolic disease on chronic carnitine supplementation

Status: No Longer Recruiting


This study consists of an online survey developed by researchers from the North American Mitochondrial Disease Consortium and sent to those enrolled in the RDCRN Contact Registry.


This Study is for:

  • Alpers syndrome
  • Aminoglycoside-induced deafness
  • Barth syndrome
  • Carnitine transporter defects
  • Cardiomyopathy
  • Complex I deficiency
  • Complex II deficiency
  • Complex III deficiency
  • Complex IV deficiency
  • Complex V deficiency
  • CPEO
  • CPEO "plus"
  • Diabetes & deafness
  • Encephalomyopathy
  • Hepatocerebral syndrome
  • Kearns-Sayre syndrome
  • Leigh syndrome
  • Leber hereditary optic neuropathy (LHON)
  • Leukoencephalopathy
  • Maternal-inherited deafness
  • Mitochondrial depletion
  • Myopathy
  • NARP
  • Pearson syndrome
  • Reversible infantile myopathy with cytochrome c oxidase deficiency
  • Pyruvate dehydrogenase deficiency
  • Pyruvate carboxylase deficiency
  • Coenzyme Q10 deficiency
  • Other: Any fatty acid oxidation disorder, organic academia and any well defined metabolic disorder.



The purpose of this study is to learn more about the use of the supplement carnitine in patients with mitochondrial and metabolic disorders. Individuals with mitochondrial disease or any other metabolic disorder who are taking carnitine or who have been on carnitine within the last 12 months may take part in the study.


About this Study

The survey will contain 8 questions. You may choose to skip any question(s) that make you feel uncomfortable. It should take approximately 20 minutes to complete the survey.


Target Enrollment: 150

To be eligible to participate, you must:

  1. Have a diagnosis of mitochondrial disease or any other metabolic disorder
  2. Be a North American Mitochondrial Disease or RDCRN Consortium contact registry participant

You are not eligible to participate if:

  1. You cannot provide informed consent and complete survey
  2. You are not participating in the North American Mitochondrial Disease or RDCRN contact registry

How to participate:

This study is no longer recruiting patients.

To be notified of future research, please Join the Contact Registry