Study Paper
A new paper is now available online (open access) at http://www.sciencedirect.com/science/article/pii/S1096719216301275?via%3Dihub
Summary
The purpose of this study is to learn more about nutritional supplement use in patients with confirmed mitochondrial disorders.
This Study is for:
- Alpers syndrome
- Aminoglycoside-induced deafness
- Barth syndrome
- Carnitine transporter defects
- Cardiomyopathy
- Complex I deficiency
- Complex II deficiency
- Complex III deficiency
- Complex IV deficiency
- Complex V deficiency
- CPEO
- CPEO "plus"
- Diabetes & deafness
- Encephalomyopathy
- Hepatocerebral syndrome
- Kearns-Sayre syndrome
- Leigh syndrome
- Leber hereditary optic neuropathy (LHON)
- Leukoencephalopathy
- Maternal-inherited deafness
- MELAS
- MERRF
- MNGIE
- MIRAS
- Mitochondrial depletion
- Myopathy
- NARP
- Pearson syndrome
- Reversible infantile myopathy with cytochrome c oxidase deficiency
- SANDO
- Pyruvate dehydrogenase deficiency
- Pyruvate carboxylase deficiency
- Coenzyme Q10 deficiency
- Other: Fatty acid oxidation disorder.
Background
Our goal is to better assess which nutritional supplements are prescribed to patients with mitochondrial disorders, the monitoring obtained and whether any subjective improvements are noted by the patients or their caregivers.
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.