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Maternal PKU Research Study


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Maternal PKU Research Study

Boston Children’s Hospital
300 Longwood Ave, Boston, MA 02115

April 25, 2010

Dear Families,

You are invited to participate in a research study about the health and well-being of women with PKU and their children. We are especially interested in learning more about the medical, nutritional and psychological effects of PKU and maternal PKU. This is important because very little is known about how children born to mothers with PKU do in the long-term.

This study is being conducted at Boston Children’s Hospital, and is being funded by grants from the Milton Foundation (a non-profit foundation at Harvard University) and the National PKU Alliance (NPKUA).  Harvey L. Levy, M.D., Susan Waisbren, PhD. and Fran Rohr, MS RD from the Metabolism Program will be conducting the study.  We expect approximately 40 mothers and 80 children from the New England and Northeast areas to participate.

Women with hyperphenylalaninemia (blood phe >2 mg/dL when on a regular diet) of any age who have given birth a child or children are eligible to participate. Their children are also eligible to participate. Foster and adoptive mothers are also eligible to participate with their children born to mothers with PKU, although no requests will be made to obtain their medical history, IQ or a blood test.

If you choose to participate, you will come to Boston Children’s Hospital for one day.  Mothers will meet with the doctor who will review your medical history and do a physical examination.  We will also ask your permission to obtain medical records. You will meet with a psychologist who will perform a brief intelligence test and ask you to complete questionnaires about your household and mood. You will meet with a dietitian who will ask you questions about your diet intake and history of PKU treatment.  Finally, you will have a blood test for phenylalanine and other indicators of nutrition.

Children will see the doctor for a physical examination. We will also take pictures of your child and your family. Your child will meet with a psychologist who will perform a developmental test for children under 3 years of age and a brief intelligence test and an achievement test for older children. You will also complete questionnaires about your child’s behavior, mood and activity level.

Although there are no direct benefits to you because of your participation in this study, you will receive a report with a summary of the results from your and your child’s evaluations. Many parents find it useful to know more about their child’s learning style and level of academic achievement.  You may find it interesting to learn more about your health, as well.   If you would like, we will send you a summary of the study once it is completed and the results have been analyzed.  The PKU community will benefit because we will learn more about how well children of mothers with PKU are doing as they get older. This information will be helpful to other women with PKU who are considering pregnancy.

Participation in this study is free. You will be reimbursed for travel expenses including automobile mileage, a parking voucher, and a $15 cafeteria voucher. There are no risks to participation in this study.  The study staff will do all that is possible to protect your private information.

If you are interested in participating in this study, please contact our research coordinator, Vera Anastasoaie, at vera.anastasoaie@childrens.harvard.edu or by phone at 617-355-7346.  Thanks so much for your consideration of this study.

– Harvey L. Levy, MD, Susan Waisbren, PhD, and Fran Rohr, MS RD