Mitochondrial Medicine Program Clinical Studies

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Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact their daily life.

The goal of this study is to find the best way to help adults with PMD deal with the stress of their condition, and to help them be better able to “bounce back,” or be resilient. In order to do this, we are going to test two interventions. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention.

The study period will last for about one month and will consist of five online visits and a one-time online discussion group.

Breath Biomarkers of Mitochondrial Dysfunction

This prospective cohort study will compare breath biomarkers from subjects with mitochondrial disease to healthy controls. The age range for the study is 4-80 years and all subjects will be recruited at CHOP. Participation would consist of a one time visit, up to 2 hours maximum, to collect identifiable information and breath sample. The goal is to identify VOC biomarkers that characterize mitochondrial disease compared to healthy controls, which could lead to a non-invasive breath test for mitochondrial function. Subjects will be compensated as a form of appreciation for participating in the study.