Summary
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, the powerhouses of human cells. Symptoms vary widely and include muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive and have poor prognoses and few available treatments.
Research into mitochondrial diseases has been hampered by their low incidence and under-diagnosis by clinicians, which has hindered recruitment of patients for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help alleviate these problems and has generated Research Diagnostic Criteria for mitochondrial diseases. This study will obtain opinions of participating NAMDC physicians towards the NAMDC Diagnostic Criteria and the NAMDC Research Diagnosis generated by the criteria.
About this Study
A survey has been developed to gauge the opinions of participating NAMDC physicians towards the NAMDC Diagnostic Criteria and the NAMDC Research Diagnosis generated by these criteria. The survey is in three parts. The pre-reveal survey assesses general attitudes towards the NAMDC Diagnostic Criteria, and will be completed prior to the distribution of Diagnostic Criteria-generated diagnoses. The individual patient survey evaluates specific reactions to Diagnostic Criteria-generated diagnoses which differ from the physicians own, and will be completed after the physician has received those diagnoses. The post-reveal survey concerns general attitudes towards the Diagnostic Criteria subsequent to the receipt of the Diagnostic Criteria-generated diagnoses.
The survey will be administered once to each physician participating in NAMDC who meets the inclusion criteria, in conjunction with the distribution of the first batch of NAMDC Research Diagnoses.
Both the conduct of the survey and the distribution of the Diagnostic Criteria-generated diagnoses will be accomplished via the secure NAMDC website. As participants in NAMDC, each physician already has a unique user account. For those physicians agreeing to participate in the study, administration of the survey will be an integrated part of the delivery of the Diagnostic Criteria-generated diagnoses.
This study is no longer recruiting patients.
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.