Clinical Research

INVITATION FOR PARTICIPATION IN A RESEARCH STUDY

McKusick-Nathans Institute of Genetic Medicine

600 N. Wolfe St.

Blalock 1012

Baltimore, MD 21287, USA

We are researchers at the Johns Hopkins Institute of Genetic Medicine. Our research involves studying the causes of variation in the symptoms of Nail Patella Syndrome (NPS). The ultimate goal is to identify genes that may predict the severity of NPS symptoms.

We would like to invite families with NPS to participate in our study. If you agree to participate, each family member with NPS will need to sign a consent form. If any children take part, both parents must sign the consent form.

We will arrange for free clinical examinations, X-rays, eye exams and tests of kidney function. We will also ask you to complete a series of questionnaires and provide a blood sample for DNA analysis. Some people will be randomly selected to receive a magnetic resonance imaging (MRI) exam. While these studies will not benefit you directly, we hope that by learning about the cause of variation in the range and severity of NPS symptoms, we will learn more about the syndrome itself and be able to provide better care for patients in the future. Again, all clinical exams and tests will be provided at no charge, but you will have to travel to The Johns Hopkins Hospital in Baltimore, MD. The results of the study will be published, however, all participants will be coded by identification number and will remain completely anonymous.

If you are unable to travel to Baltimore, you can still participate in part of the study by completing a series of questionnaires and sending us a blood sample.

If you are interested in participating or if you have questions regarding this study, please e-mail Dr. Iain McIntosh ([email protected]) or Britt Silkey ([email protected]). You can also reach us by telephone at 410-614-6308 or by regular mail for additional information and to make arrangements. Unless we hear from you first, we will not contact you again regarding this study.

Thank you for taking time to consider participation in this study.

Sincerely,

Iain McIntosh, Ph.D. Britt Silkey, B.A.

Associate Professor, Coordinator.

Genetic Medicine

Julie E. Hoover-Fong, M.D.

Assistant Professor of

Pediatrics, Genetic Medicine.

DISCLAIMER: These materials are for informational purposes only, and are intended to provide you with reliable and timely health information. It is not our aim to provide health advice or counseling, which should be sought from a licensed health care practitioner or health care organization.