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7414: Diagnostic Odyssey Survey

Status: No Longer Recruiting

 

Study Paper

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

https://www.mailman.columbia.edu/public-health-now/news/mitochondrial-disease-patients-face-difficult-road-diagnosis  

 

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.

 

About this Study

If you take part in this study, you will be asked to complete an online survey developed by researchers from the North American Mitochondrial Disease Consortium (NAMDC) and sent to those enrolled in the Rare Diseases

The survey contains between 16 and 25 questions. You may skip any question(s) that you don't want to answer. It should take approximately 15 minutes to complete the survey.

 

Targeted Enrollment

To be eligible to participate, you must:

  • Have a mitochondrial disease diagnosis

  • Belong to the Rare Diseases Clinical Research Network's North American Mitochondrial Disease Consortium Contact Registry.

  • Sign the informed consent form

You are not eligible to participate if:

  • Do not have a mitochondrial disease diagnosis

  • Do not belong to the Rare Diseases Clinical Research Network's North American Mitochondrial Disease Consortium Contact Registry.

  • Do not sign the informed consent form

 

How to Participate

This study is no longer recruiting patients.

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