Publications Resulting from This Study
A new paper is now available online (open access) at http://ng.neurology.org/content/4/2/e230.
A Neurology podcast by Dr. Hirano and Dr. Thompson is available at http://www.aan.com/rss/?event=feed&channel=1
For a non-technical summary see
Summary
The purpose of this survey is to gain an understanding of the "diagnostic odyssey" patients with mitochondrial disease undergo.
For Diseases:
This study is for anyone who has joined the Rare Diseases Clinical Research Network's North American Mitochondrial Disease Consortium Contact Registry because either they or their loved one has been given a mitochondrial disease diagnosis.
Background
Mitochondrial diseases comprise a group of relatively rare (about 1 in 5,000) but very serious genetic disorders. They are caused by defects in mitochondria cells in the body. Symptoms for people who have mitochondrial diseases vary widely and include: developmental delay or regression, muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are get worse the older a person gets and do not have a good conclusion. Currently, there are few available treatments.
Research into treatment for mitochondrial diseases has been slowed by the fact that they are rare. In addition to being rare, they are under diagnosed by doctors. That means that people with mitochondrial diseases are not asked to join research studies.
This survey was developed to gain an understanding of how the diagnosis of mitochondrial disease takes place and what impact such a diagnosis has on individuals.
This study is no longer recruiting patients.