MEDICAL RECORD 
CONSENT TO PARTICIPATE IN A CLINICAL RESEARCH STUDY’ 
• Adult Patient or • Parent, for Minor Patient 
INSTITUTE; 
National Cancer Institute 
STUDY NUMBER PRINCIPAL INVESTIGATOR: Michael Blaese, M.D 
STUDY TITLE' Treatment of Severe Combined Immunodeficiency Disease (SCID) due to 
Adenosine Deaminase Deficiency (ADA) with Autologous Lymphocytes Transduced with 
a Human ADA Gene 
INTRODUCTION 
We invite you (or your child) to take part in a research study at the National Institutes of Health. It is important that yoi 
read and understand several general principles that apply to all who take part in our studies: (a) taking part in the studv 
is entirely voluntary; (b) personal benefit may not result from taking part in the study, but knowledge may be gained tha 
will benefit others; (c) you may withdraw from the study at any time without penalty or loss of any benefits to which yoi 
are otherwise entitled. The nature of the study, the risks, inconveniences, discomforts, and other pertinent informatior 
about. the study are discussed below. You are urged to discuss any questions you have about this study with the staf 
members who explain it to you. 
What is ADA Deficiency 
Your child has a disease called Severe Combined Immunodeficiency (SCID), which has caused your child 
to have an increased number of infections. The specific cause of SCID in your child is a defect in a gene 
called adenosine deaminase (ADA). This defect stops production of a key enzyme (a protein) necessary 
for normal immunologic functioning. A gene is the part of a chromosome (hereditary material) that 
contains the information a cell needs to make proteins. The ADA gene produces a protein that is required 
for normal growth, maturation, and functioning of T-lymphocytes. T-lymphocytes are a type of white 
blood cell necessary for the body to eliminate many types of infections. Because of the defective ADA 
gene, the number and function of T-lymphocytes is low and the children have many infections. The 
current treatments for ADA deficiency, discussed below, are bone marrow transplantation or periodic 
injections of PEG-ADA enzyme. 
Current Treatments for ADA Deficiency 
Bone marrow transplantation can cure ADA deficiency. Matched sibling donor marrow transplants 
reverse ADA deficiency in most cases without the need for chemotherapy or radiation. Most children, 
like your child, have no matched donor. There are two primary treatments for children without matched 
donors: (1) a partially-matched bone marrow transplant or (2) PEG-ADA therapy. Partially-matched 
transplants frequently require chemotherapy to allow the transplant to be successful. For some 
patients with no matched donor, the risks associated with chemotherapy are considered to be too great. 
As an alternative treatment, you and your child’s physician decided to place your child on PEG-ADA 
treatment. 
PATIENT IDENTIFICATION 
CONSENT TO PARTICIPATE IN A CLINICAL 
RESEARCH STUDY 
• Adult Patient or • Parent, for Minor, Patient 
Recombinant DNA Research, Volume 14 
[245] 
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