Frequently Asked Questions about the Twin Study

Polycystic Ovary Syndrome (PCOS Twin Study)

Why am I being asked to participate in this study?

You are being asked to participate in this research study because you or your twin are registered with the Mid-Atlantic Twin Registry (MATR) and have previously indicated that you are interested in participating in research studies. You may have also taken a MATR phone survey on Polycystic Ovary Syndrome (PCOS), and indicated in this survey that you have one or more traits that are usually associated with PCOS. Some of these traits are quite common, and thus having them does not mean that you have. PCOS can only be determined from a medical exam and blood testing.

What is the purpose of this study?

This study is Phase 2 of a multi-phase research study to identify the genetic and environmental risk factors for PCOS. The goal is to identify a group of female twin pairs in which one or both twins have PCOS. The data and clinical information collected during this study will be used to find out how much of PCOS is due to heredity (genes) and how much is due to environmental factors. This study may lead to future studies to identify what some of those genes and environmental factors are. Knowing what causes PCOS can help scientists develop new treatments and strategies for reducing a woman's chance of developing PCOS, especially if PCOS runs in her family. It might also lead to information on how to lower the rates of other conditions that are associated with PCOS such as obesity, diabetes, high cholesterol, high blood pressure, heart disease and certain cancers.

How many subjects will participate in this study?

We are hoping to recruit as many twin pairs as possible. Our ultimate goal is 500 twin pairs.

What will happen if you take part in the study?

There are two things we will ask you to do if you volunteer to participate in this study.

1. Blood Test: For the first part of the study, you might be asked to provide a blood sample to test for the male hormone testosterone. Testosterone is generally present at low levels in all women, but is sometimes present at abnormally high levels in women with PCOS. If you are asked to have this test done at the beginning of the study, a home health care agent will come to your home (or workplace) to collect about one teaspoon of blood from your arm. We will pay for this test as well as all other costs associated with having the home health care agent come to your home to collect the blood sample. If your testosterone levels are normal, you do not meet the criteria for continued participation in the study at this time, but might be eligible at a later date. If your levels are above a certain level, you will be eligible to continue in the next part of the study.
2. Medical Evaluation: Based on the testosterone result and the results from the MATR PCOS survey you took previously, we may ask that both you and your twin sister travel to the Duke Clinical Research Unit (DCRU) at Duke University Medical Center (DUMC) in Durham, NC, for a medical examination to determine if you have PCOS. In this type of study, it is important that both members of a twin pair participate. Therefore, before your exam is scheduled, your twin sister must agree to participate, too.

The exam will be conducted by an endocrinologist, a doctor who specializes in PCOS and other hormone disorders. The full exam will take 4-6 hours and, depending on where you live, may require an overnight stay in Durham prior to the day of your appointment. We will make all the travel arrangements for you, and pay for all your travel expenses and meals, all the medical tests, and the exam itself. You will also be provided your test results when they are complete to take to your own doctor.

All the procedures you will undergo as part of this evaluation are described in detail below. Please review these procedures carefully before you decide to participate in this PCOS Twin Study.

What blood tests will I have?

During the morning of the medical exam, blood will be collected from you at three different time points. In preparation of these blood tests, you must not eat or drink anything (except water) after midnight the night before the exam. The exam will be scheduled for you early in the morning at Duke. Once you arrive at the clinic, lab personnel will collect the first set of blood samples (about 3 tablespoons or 1.5 ounces of blood) from your arm. This blood will be used to test for hormones and biochemical metabolites (products of various chemical processes of the body) as well as your baseline glucose (sugar) and insulin levels. It will also be used to perform a test to find out whether you and your sister are identical or fraternal twins. Finally, we will use the blood sample to test if you are pregnant. We are only doing a pregnancy test because if you are pregnant, your hormone levels will be high and this will interfere with the data analyses for the study. You will be excluded from the study if we determine that you are pregnant, but you can continue with the exam for your own benefit if you wish. The exam and tests that will be performed will not harm you or your fetus.

Following this initial blood collection, you will drink approximately 1 cup (7.5 ounces) of a special cola drink (Glucola) that contains an exact amount (75 grams) of sugar. One and two hours later, clinic personnel will collect second and third blood samples (about 1 teaspoon) from your arm. After the third blood sample has been collected, the site coordinator will provide you with a light snack.

While the tolerance test is going on, and at other times during the day, you will undergo the procedures described below.

• Medical and Family History: A doctor will ask you various questions about your personal and family medical history. It is important that you answer these questions honestly.
• Medical Exam: A doctor will measure your weight, height, hip and waist circumference and your blood pressure, and will listen to your heart, chest and lungs. The doctor will also examine you for acanthosis nigricans. These are velvety, dark brown to black markings on the skin.
  • Stretch marks: The doctor will examine you for stretch marks usually found around the abdomen
  • Androgen excess: The doctor will check you for baldness, acne, excess hair growth. The latter will include the type and amount of hair on your lip, chin, chest, upper and lower back, upper and lower abdomen, thighs, legs and upper arms.
  • Ultrasound: The most accurate method to tell whether or not you have cystic ovaries is to do a vaginal ultrasound. During this procedure a study sonographer or ultrasound technician will insert a long, thin cylindrical ultrasound transducer (probe) into your vagina. The technician will then gently move the transducer around in order to scan the ovaries. You may experience some mild discomfort due to the pressure of the probe. About 15-20% of the time, a vaginal ultrasound does not give a good picture of the ovaries. If this happens to you, you will also have an ultrasound done on your abdomen.
  • External genitalia examination: If necessary, you might be examined for an enlarged clitoris as this can indicate other conditions that act like PCOS.

Optional future metabolic and/or genetic testing. During the medical evaluation, one tube of blood will be collected to send to a specimen repository at the NIEHS where it will be frozen and stored for future tests not yet specified. Your genetic material might be extracted from this blood sample and used in future genetic testing. All samples held in this repository will be coded with a unique personal identification number (PIN). Only personnel directly involved with this study will have access to the PIN key that connects your personal information to your blood samples and results.

Optional skin punch biopsy. At the exam, you will be asked to provide a small skin punch biopsy. This is optional - you can still participate in the study without having the skin punch biopsy done. But if you agree, the doctor will use a special skin punch device that is safe and quick. First your skin will be disinfected and then numbed with a local anesthetic. The doctor will use the punch to remove a small circle of skin, about the size of a small pea. The site will be closed with one stitch and this will dissolve on its own after a few days. You will not have to see a doctor to have it removed.

What are the optional exclusionary tests?

Depending on the results of your exam and blood tests, there is a very small possibility that you have another condition that acts like PCOS. The study doctor may suggest that you have additional tests done to rule out these conditions after you leave Duke. These conditions that mimic PCOS are rare and the chances that you will be referred for extra testing are unlikely. But if you want, the study physician can discuss the tests with you and make arrangements for you to visit your own personal care doctor or an endocrinologist closer to your home to have them done. If you decide to have them done, we will pay for them. But you are not required to have them done as they are only for your benefit. If you decide not to have us refer you for further testing, we recommend that you at least consult your own doctor with the results from this medical exam.

If you opt to have the tests done, there are some small risks associated with them. One test requires the injection of medication followed by the collection of either blood or urine to measure your body's response to the medication. There may be some minor irritation (e.g. redness, swelling) at the injection site. You might also feel an upset stomach, dizziness or headache, or have an allergic reaction. However, since the tests will be done in the presence of medical personnel, they will be able to respond appropriately should any of these symptoms occur.

Again, the chances of you having one of these conditions that mimic PCOS is very rare, and therefore the chance that we will suggest these tests to you is also very rare.

How long will your participation last?

If you are visited by the home health care agent to draw the initial blood sample for bioavailable testosterone levels, it will take about one hour of your time. The amount of time it takes to complete the medical exam at Duke University Medical Center in Durham, NC will depend on where you live. If you are local to the Durham NC area, the exam may take 4-6 hours of your time. If you are not local and have to travel there the night before the exam, this might take about one and a half days of your time. Your participation in this study will end after the medical exam is complete.

What are the possible risks or discomforts?

The risks to you are minimal. There may be some bruising, slight pain or swelling on your arm where the blood samples are collected. During the transvaginal ultrasound, an ultrasound probe will be inserted into your vagina. You may feel some mild discomfort due to the pressure of the probe during this procedure. The transvaginal ultrasound may reveal findings that may cause anxiety and require further investigation by a gynecologist, such as a uterine lining biopsy or further imaging. If abnormal findings are noted, you will be referred to a gynecologist. The sponsor will not pay for these studies.

If the Duke physician recommends that you have extra tests done to rule out one of the conditions that mimics PCOS, there are small risks associated with those tests and they are described above. However, these conditions are very rare, and the chance that these tests will be recommended is very rare also.

What are the possible benefits?

You may not receive any direct benefit as a result of participating in this study. However, if you participate in the medical exam, you will receive diagnostic tests free of charge. These tests will not only tell you if you have PCOS, but will also tell you more about your general health as well, such as if you have diabetes, high blood pressure, high cholesterol and other conditions. You may also learn if you have another condition that mimics PCOS that you might not yet be aware of.

You will also indirectly benefit by helping scientists discover some of the genetic and environmental factors that can cause women to develop PCOS. The information from this and future studies will ultimately be used to develop strategies for preventing or treating PCOS in future women, and may help them lower their risks for other conditions such as obesity, diabetes, high cholesterol, high blood pressure, cardiovascular disease and certain cancers. If you are diagnosed with PCOS, you will not receive treatment for your PCOS as part of this study. We will refer you back to your own doctor for treatment or we can refer you to an appropriate doctor in your area.

If you choose not to participate, what other options do you have?

Your participation in this study is completely voluntary. If you chose to participate, you can withdraw at any time for any reason. Participating in this study does not mean that you are obligated to participate in future studies if asked.

The alternative to participating is that you do nothing or have your own doctor examine you for the symptoms you reported on the earlier PCOS phone survey.

What if we learn about new risks during the study?

The goal of this phase of the study is only to identify twin pairs in which one or both co-twins have PCOS. Therefore, it is unlikely that we will learn about any new risks for PCOS in this phase of the study. We will give you all your test results. If you are diagnosed with PCOS or one of the secondary PCOS conditions as part of this study, you will be encouraged to follow up with your personal doctor. Even if test results do not indicate PCOS, they may indicate another condition that you should have evaluated.

How will your privacy be protected?

Every effort will be made to protect your identity and study results consistent with laws relating to public disclosure of health information. Upon your arrival at Duke, you will be assigned a Duke Medical Records Number and hard copies of your medical evaluation results will be maintained in a medical records folder, following Duke Healthcare medical records procedures.

Then your medical evaluation data and blood results data will be coded with a personal identification number. The key to this code and study data will be stored in password-protected electronic files and back-up disks will be stored in locked cabinets. Hard copies of study data will be stored in locked filing cabinets. Only the investigators and personnel directly involved in this study will have access to the key to your personal information and your study data. Also, your test results will not be shared with your twin.

Will you be paid for participating?

You will be paid $25 if you give the initial blood sample for your testosterone level. After that, each twin will be paid $100 for the medical exam at Duke University in Durham, NC or at another clinic in your area. Then if you agree to have the skin biopsy done, you will receive another $50.00.

Will it cost you anything to participate?

Other than your time, there will be no cost to you for participating in this study.

What if you want to stop before your part in the study is complete?

You can withdraw from this study at any time for any reason. If you withdraw from the study, no new data about you will be collected for study purposes. In this case, the study doctors at Duke will send all data that have already been collected for study purposes to you or your personal doctor.

Your decision not to participate or to withdraw from the study will not involve any penalty or loss of benefits to which you are entitled, and will not affect your access to health care at Duke. If you do decide to withdraw, we ask that you contact the Study Coordinator, Julie Linville, in writing and let her know that you are withdrawing from the study. Ms. Linville's mailing address is:

Julie Linville
Constella Group, LLC
2605 Meridian Parkway, Ste 200
Durham, NC 27713

What will happen to the blood samples you give?

The blood left over from your medical exam will be discarded once the tests are complete. If you agreed to give an extra sample for future testing, that will be coded and kept in a repository indefinitely. If you want this specimen removed from the repository at any time, we ask that you contact Ms Linville in writing at the address above and let her know you want the sample removed and destroyed. Once notified, we will discard what blood or DNA samples are remaining. If your blood has already been analyzed for various metabolites or genetic tests and the data have been statistically analyzed, we will not be able to remove the data from our databases, but you will never be identified personally.

What if you have questions about this study?

You have the right to ask, and have answered, any questions you may have about this research. If you have further questions, you should call the Study Coordinator, Julie Linville at 866-809-1260.

What if you have questions about your rights as a subject?

For questions about your rights as a research participant, contact the following:

• For the NIEHS Institutional Review Board (IRB), please call Dr. Marian Johnson-Thompson, NIEHS IRB Chairperson, at 919-541-4265.
• For the Duke University Health System IRB, please call 919-668-5111.

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