7404: Survey Regarding the use of Oocyte Nuclear Transfer in Mitochondrial Disease

Status: No Longer Recruiting



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:

  1. "Survey for Women who Participate in Egg Retrieval Procedures" and
  2. The "Survey for Women who carry Mitochondrial DNA (mtDNA) Mutations". 

The surveys will be provided to the appropriate groups:

  1. Female egg donors, and
  2. Females who carry mtDNA mutations


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.


About this Study

This is a onetime survey study.

The surveys concern subjects' attitudes on research and therapy with human eggs. The survey for egg donors focuses on whether they would support the use of their donated eggs in the development of this technique and also whether they might approve of the use of their oocytes to receive nuclear DNA from the carrier mother, with subsequent fertilization and implantation (into the carrier mother).

The survey for women who carry mtDNA mutations is designed to gauge the level of enthusiasm for the development of these procedures among the mitochondrial community, as well as to obtain contact information for carrier mothers who might want to utilize this technique to have a child.


Target Enrollment

To be eligible to participate, you must:
  1. Be a woman who donates eggs through the Columbia Reproductive Health Clinic, or
  2. Be a woman who carries or is at risk for carrying mtDNA mutations.

All research subjects (donors and mutation carriers) must be at least 18 years of age to participate.

You are not eligible to participate in the potential mtDNA mutation carriers survey if:

  1. You are a Male
  2. You do not carry a known mitochondrial mutation or have a maternally related relative who carries a known mitochondrial mutation.
  3. You are under 18 years of age.

You are not eligible to participate in the potential oocyte donors survey if:

  1. You are a Male
  2. You are under 18 years of age.

How to participate

This study is no longer recruiting patients.

To be notified of future research, please Join the Contact Registry