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7414: Diagnostic Odyssey Survey

Publications Resulting from This Study

A new paper is now available online (open access) at

A Neurology podcast by Dr. Hirano and Dr. Thompson is available at

For a non-technical summary see


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.


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.


The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient. In order to do this, the investigators are going to test two interventions (an intervention means that it aims to change something): Promoting Resilience in Stress Management (PRISM) and clinical-focused narrative (CFN) intervention.


The investigators are going to test two interventions in this pilot study. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention. These interventions involve talking with the researcher about several specific topics.

Participants will join six virtual study visits. They will be assigned to the PRISM group or the CFN group. During the first study visit, participants will learn about the study and will fill out consent forms if they want to participate. In the next four visits, participants will receive one of the study interventions (PRISM or CFN). Some interventions will be supported with a digital app for participants to track progress and review what was talked about in the intervention. The sixth virtual study visit will be a discussion group that happens a couple months after participants finish the intervention.

Participants will also be sent several surveys to complete. One set of surveys is sent just once after the participant enrolls in the study. Another set of surveys is sent after the participant enrolls and again after the participant finishes the interventions.

The study team will review participants' medical records to confirm they have primary mitochondrial disease and to review the genetic diagnosis. If participants do not have copies of their own medical records or if the study team does not already have access to them, the study team will ask participants to sign a release form to obtain a copy of the medical records and/or genetic testing report.

How to participate

In order to participate in a study, you may contact any of the participating sites.