Study Paper
A new paper is now available online at:
https://pubmed.ncbi.nlm.nih.gov/26936885/
Summary
Two surveys have been developed to assess the attitudes toward nuclear transfer procedures and interest level in participating in this research project. The surveys are entitled:
- "Survey for Women who Participate in Egg Retrieval Procedures" and
- The "Survey for Women who carry Mitochondrial DNA (mtDNA) Mutations".
The surveys will be provided to the appropriate groups:
- Female egg donors, and
- Females who carry mtDNA mutations
Background
The cells of our body contain two types of DNA: nuclear DNA, which is inherited from both parents, and mitochondrial DNA, which is inherited only from the mother. Many serious diseases are caused by genetic changes (mutations) in the mitochondrial DNA. Subjects can often become very sick and lifespan can be shortened. Mothers who carry mitochondrial mutations ("carrier mothers") are very likely to pass these mutations down to their children and some of these children will develop a mitochondrial disorder while others are will remain as "mutation carriers" only. In turn, the female mutation carriers are likely to pass the mutation on to her children.
A new technique is being developed in the research laboratory that would reduce, or even eliminate, the transfer of harmful mtDNA from the carrier mother to her children. The technique requires removal of the carrier mother’s nuclear DNA from her egg (in the laboratory) and transferring it to a healthy donor’s egg in which the nuclear DNA has been removed. The new egg will be fertilized with sperm (father) and then implanted back into the carrier mother. Although the fertilized egg (called zygote) will have the DNA of 3 people, the child will have his/her parent’s physical features and the donor mtDNA will serve only as an energy producing "machine" and will not contribute to the physical features of the child.
In order to develop this technique we will first do some testing in the laboratory. Laboratory testing does not involve the production of viable zygotes. Once the technique is well established we will offer it to carrier mothers.
As we prepare to undertake the research required to develop this procedure, this protocol will allow us to assess the attitude and interest level of women who might benefit from these procedures as well as of those who would serve as healthy "control" egg donors. A brief survey will be provided to each of these two groups.
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.