Fall 2007 Newsletter
CARES Foundation, Inc.
Classical Adult Women’s Quality of Life Study
CARES
Foundation and Dr. Sheri Berenbaum from Pennsylvania State University have launched
a quality of life study of women with classical CAH. It is open to women with classical
CAH (Salt wasting and simple virilizing forms) over the age of 18, and entails answering
a written survey. If you have questions about the study or want more information,
please contact Kelly Leight at 1-866-227-3737 or email kelly@caresfoundation.org. 
Study to Test Insulin Pump Use in CAH
The purpose of this study is to develop a more physiological approach to the management of children and adolescents with salt wasting Congenital Adrenal Hyperplasia.
The glucocorticosteroid will be administered via insulin infusion pump to see whether this treatment will improve the serum hormone concentrations. In this study, researchers will try to imitate the body's normal hormone production and will give the medication via an insulin pump to see if this treatment method will decrease the male hormones in the blood. This study will help to develop a new and better treatment for children and adolescents.
The study will take place at Texas Children's Hospital Clinic and General Clinical Research Center,Houston, Texas and is open to children with SWCAH, ages 3-18.
If interested in learning more or participating, please contact :
Andrea
E Balazs, MD • 832-822-3773
aebalazs@texaschildrenshospital.org
Prenatal Diagnosis Research Project to Target Which Women Should Take Dexamethasone During Pregnancy
We are seeking the help of couples at risk for having an affected child with congenital adrenal hyperplasia to participate in a research project in Boston. As you know,some pregnant women are offered the opportunity to take dexamethasone early in pregnancy to reduce the risk of masculinization of a female fetus affected with congenital adrenal hyperplasia (CAH). The problem is that only 1 in 8 fetuses will be female AND affected, so 7 out of 8 possible fetuses will receive unnecessary treatment. Steroids, while effective, do cause side effects in pregnant women and some children. Our research aims to target dexamethasone treatment to only female fetuses at high risk of having CAH.
The purpose of this research study is to develop a simple prenatal test that will use blood samples from a pregnant woman and her partner. The pregnant woman’s blood will be used to determine if the fetus is male or female using cellfree fetal DNA testing. This can be done as early as 7 weeks following the first day of the last menstrual period. If both parents have different mutations, the partner’s blood will be used to test for the presence of his mutation in the pregnant woman’s blood, which was inherited by the fetus.
Please note that this is a research study. In the first phase of the study, we cannot release results of fetal gender testing to you. Thus, the results will not affect your clinical care. However, if we get enough patients enrolled, and our study is accurate, our hope is that in the near future this will transition to early fetal gender diagnosis that can be used clinically. The study involves 1-2 blood samples from the pregnant woman and 1 sample from her partner. There is no travel required. We will arrange to have the blood drawn in your hometown.
To find out more information about participating, please contact:
Helene
Stroh
Hstroh@tufts-nemc.org
or
Diana Bianchi, M.D.
Dbianchi@tufts-nemc.org
AN INVITATION to participate in a study on mothers of babies with a genetic anomaly or birth defect
Hello! I am a PhD student studying maternal adaptation in women who have given birth to babies who were diagnosed prenatally with a genetic anomaly or birth defect. I need at least 100 mothers 18 years or older to fill out a research questionnaire. This online questionnaire should take approximately 30 to 40 minutes to complete.
If you would be willing to participate, please visit the following website to connect to the survey and get further directions: www.surveymonkey.com/s.aspx? sm=AnmUvT 8gwV7uEUcK1o36fQ_3d_3d
The information that is learned from this study may help us design better nursing care and support for mothers who have babies with a genetic anomaly or birth defect, and their babies.
If
you have any questions or need more information after completing the survey, please
contact Cynthia M. Little, RNC, MSN, WHNP, School of Nursing, Virginia Commonwealth
University at littlecl@vcu.edu.
Thank you for considering the invitation to complete this survey.
Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken to be the provision or practice of medical, nursing or professional healthcare advice or services. The information should not be considered complete or exhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcare provider. You should not us the information in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physician or healthcare provider. The articles presented in this newsletter are for informational purposes only and do not necessarily reflect the views of CARES Foundation, Inc.