MEDICAL RECORD 
CONTINUATION SHEET for either: 
NIH 2514-1, Consent to' Participate In A Clinical Research Study 
NIH 2514-2, Minor Patient’s Assent to Participate In A Clinical Research Study 
JTUDY NUMBER: CONTINUATION: page _Lof JL pages. 
Transplantation is often successful in reversing or minimizing the 
problems associated with Gaucher disease. However, the majority of 
patients will not have an appropriate family donor. In addition 
there are many serious health risks associated with bone marrow 
transplantation. Since bone marrow transplantation is often not 
possible or desirable, alternative treatments have been tested. 
The best available treatment for Gaucher disease is known as enzyme 
replacement therapy. Enzyme replacement therapy with "Ceredase", 
the commercially available product, is effective and safe in most 
patients, and you may be receiving this therapy at the present 
time. However, enzyme replacement therapy must continue for the 
entire life of a Gaucher disease patient, is very expensive, and 
may not be available to many patients with Gaucher disease. 
The purpose of this study is to investigate an alternative 
experimental form of therapy for Gaucher disease called "gene 
therapy". We seek to determine if we can use gene therapy 
procedures to insert the normal gene responsible for producing the 
missing GC enzyme into immature blood cells of patients with 
Gaucher disease. Certain cells in the blood and bone marrow called 
"stem cells" are responsible for producing all the blood cells in 
the body, such as red blood cells, white blood cells, and 
platelets. One type of cell produced by these stem cells, called 
a "macrophage " , is the cell that builds up the abnormal waste 
products in Gaucher disease. If we could insert the normal gene for 
the missing GC enzyme into the stem cells responsible for making 
macrophages, then possibly these macrophages would no longer build 
up the toxic waste products, and some of the problems associated 
with Gaucher disease could be eliminated. 
We will collect bone marrow or blood stem cells from patients with 
Gaucher disease and treat them in the laboratory with a procedure 
designed to place the GC gene in the cells. These treated cells 
will then be placed back in the patient's body. We will then 
perform a number of tests to determine whether the new gene is 
present, and whether or not it is working. It is important to 
realise that at this stage, this experimental procedure is only 
designed to test the safety of these new procedures. There is only 
a remote chance that this procedure will result in any direct 
benefit to you, though it is possible that the results of this 
study will lead to a form of "gene therapy" which may benefit you 
or other patients in the future. 
Pre-Study Testing: Prior to being entered into this study you will 
undergo blood tests, bone marrow aspiration and biopsy. X-ray and 
riENT IDENTIFICATION 
CONTINUATION SHEET for either: 
Recombinant DNA Research, Volume 17 
NIH-2514-1 (10-84) 
NIH-2514-2 (10-84) 
-(ssir 30 * 1 
