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MEDICAL RECORD 
CONSENT TO PARTICIPATE IN A CLINICAL RESEARCH STUDY 
• Adult Patient or • Parent, for Minor Patient 
iw^TiTHTF- National Heart, Lung and Blood Institute, National Institute of Neurologic Disorders 
and Stroke 
STUDY TITLE’ Retroviral Mediated Transfer of the cDNA for Human Glucocerebrosidase into 
Hematopoietic Stem Cells of Patients with Gaucher Disease (Bone Marrow Stem Cell Arm) 
We invite you (or your child) to take part in a research study at the National Institutes of Health. It is important that 
you read and understand several general principles that apply to all who take part in our studies: (a) taking part in 
the study is entirely voluntary; (b) personal benefit may not result from taking part in the study, but knowledge may 
be gained that will benefit others; (c) you may withdraw from the study at any time without penalty or loss of any 
benefits to which you are otherwise entitled. The nature of the study, the risks, inconveniences, discomforts, and 
other pertinent information about the study are discussed below. You are urged to discuss any questions you have 
about this study with the staff members who explain it to you. 
BACKGROUND AND PURPOSE 
Gaucher Disease is a genetic disorder caused by an abnormality of 
a certain gene. This gene is responsible for directing the cells 
in the body to produce an enzyme called glucocerebrosidase (GC). 
Therefore, patients with Gaucher disease do not have normal 
activity levels of this enzyme in their body. This lack results in 
the body accumulating certain waste products, called 
glucocerebrosides , which can be damaging to the body. These waste 
products can accumulate in many parts of the body. This process is 
most severe in the spleen, liver, and bone marro,w. Spleen 
involvement often results in an extremely large spleen, which can 
cause severe problems, such as low blood counts, bleeding, and 
inability to fight infections. Bone marrow involvement can cause 
bone pain, bone deformities, and bone fractures. Liver involvement 
can lead to liver failure. Other organs besides liver, bone marrow 
and spleen can be affected in Gaucher disease. The enlarged spleen 
and liver may make breathing more difficult. The heart can be 
overworked pumping large amounts of blood to the enlarged organs. 
The skin can also be affected. 
Over the past twenty years, there has been a great deal of research 
into the treatment of Gaucher disease. One form of treatment is 
Bone Marrow Transplantation, using bone marrow from a brother or 
sister that does not have Gaucher disease. Bone Marrow 
STUDY NUMBER 
PRINCIPAL INVESTIGATOR: Cynthia E. Dunbar, M.D. 
Norman Barton, M.D. 
INTRODUCTION 
PATIENT IDENTIFICATION 
CONSENT TO PARTICIPATE IN A CLINICAL 
RESEARCH STUDY 
• Adult Patient or • Parent, for Minor Patient 
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PA 09-2! 
NIH-2514-1 (9-91) 
pa 092^p^ com 5i n ant DNA Research, Volume 17 
