Summary
The purpose of this study is to identify the genetic basis of mitochondrial disease in patients where the diagnosis is clinically highly suspected.
Despite advances and availability of genetic testing, many patients with several mitochondrial disease symptoms do not have a genetic confirmation of the disease. A subset of the participants in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) do not have genetic confirmation, even though they present with symptoms and findings compatible with a mitochondrial disease.
In this study, we will utilize samples previously collected in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) and perform more complete genetic testing on the DNA in those samples. Our goal is to confirm the presence of a mitochondrial disease in as many participants as we can in order to provide them with a more conclusive diagnosis for their disease.
How to participate
We will not be recruiting people to join this study at this time. NAMDC investigators will be looking at the records and specimens of their participants in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) to identify DNA samples that may proceed to the genomic sequencing testing under this protocol.
Summary
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.
Description
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.