Endometriosis Gene Study

It has long been anecdotally held that endometriosis tends to run in families, specifically down the mother’s side. The Center for Endometriosis Care is pleased to announce that we are participating in an exciting study of that concept. We have been named the Atlanta center for OXEGENE, the Oxford Endometriosis Gene Study.

The goal for the study is to discover whether there is a genetic cause for endometriosis. Doctors at the University of Oxford in England believe that there is, and that if they study enough affected women and their family members, they can discover what it is.

Who Is Eligible?

Study author Stephen Kennedy, M.D., explains that the ideal situation is a family in which at least two sisters have pathologically confirmed, stage III or stage IV endometriosis. In addition, ideally, both parents are alive. The study hopes to enroll 200 such families in calendar 1996.

However, they are also accepting families where one sister has been diagnosed and the other has symptoms but has not yet had surgery. Also, having a lesser stage of disease does not automatically eliminate a woman from participation.

In addition, the study would like to enroll multi-generational families with endometriosis in the study. As an example, Eliza Endo and her sister Emily have endometriosis. Their mother, Esther Endo, had a hysterectomy when the girls were young because of unbearable pelvic pain. Esther’s mother, Margaret Maternal, was told she had "chocolate cyst" after an abdominal surgery. Assuming all these women are living and willing to participate, the study would like information and blood samples from them all.

Finally, if one parent is deceased or unable or unwilling to participate in the study, other direct line family members, such as that parent’s parent, brothers or sisters, can be substituted.

What Is Involved?

The sisters with endometriosis are asked to complete a very brief questionnaire about symptoms and surgeries. They are asked for permission to obtain the confirming medical records. Then a blood sample is drawn from every participating family member. The blood is shipped overnight to a collecting station in Utah, where it is frozen and stored for analysis. The samples are studied for the sole purpose of learning more about endometriosis.

Will It Cost Me?

Dr. Albee has volunteered to have his office staff draw blood for any of his patients who participate, as well as from their appropriate family members. The study is bearing the cost of containers and shipping. If you have family members who live too far away from the Center for Endometriosis Care to come in for the blood draw, a blood sample kit will be sent to them. This kit holds everything that is needed, including shipping instructions and postage. Each family member would then ask his or her health care practitioner to draw 70 mL of blood for the study, package it, and ship it to Utah. 70 mL is seven tubes of blood, each. Information about the study will be provided for you to share with those professionals.

Who Else Is Involved?

The study is based in Oxford, England, but is collecting data from all over the world. The Center for Endometriosis Care is the site in Atlanta. Other major centers are located in Aukland (New Zealand), Chicago, Dublin, Heidelberg, Memphis, Milan, Moscow, Leuven (Belgium), New Haven (Connecticut), Palo Alto (California), Reykjavik (Iceland), Salt Lake City, San Antonio, Stockholm and Trondheim (Norway).

How Do I Enroll?

The CEC does not have current recruitment or data information pertaining to this study.  For more information, please contact the OXEGENE researchers directly at skennedy@molbiol.ox.ac.uk or refer to
http://humupd.oxfordjournals.org/cgi/reprint/7/4/411.pdf.   Thank you.

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