Betathalassemia major is a disease of the blood and bone marrow. You were born with it and
it has made you unable to make normal hemoglobin and red cells. You have been receiving red
blood cell transfusions all your life. These transfusions do not cure your disease. The
problem with transfusions is that they contain a lot of iron. With time iron builds up in
your body and will eventually hurt some of your organs . Because of this buildup of iron ,
you are taking medicine that helps your body get rid of the extra iron.
Today, the only other treatment is bone marrow or stem cell transplant. It can only be done
when a matched donor is available. This is most often a brother, sister, or parent. Bone
marrow transplant may cure betathalassemia major. If you have a transplant and it is
successful, you will no longer have the disease. Without a matched sibling or parent, the
standard treatment is to keep having transfusions.
In the near future, we will be testing a new treatment for making normal hemoglobin and
normal red blood cells. We have recreated the healthy hemoglobin gene in a test tube. We are
able to use it and put it back into cells. This is called gene therapy. We have been able to
put this gene into the stem cells of mice with thalassemia. These mice were cured. We now
plan to take that gene and put it into stem cells from people who have betathalassemia
major. We will then inject those stem cells back into that person's blood.
In general, we can obtain more stem cells from the blood of a person than from the bone
marrow . In order to do so, we must give that person a blood growth factor. The growth
factor stimulates the bone marrow to make more stem cells. That growth factor is called
granulocyte colony stimulating factor (GCSF), or Filgrastim.
The purpose of this trial is to find out if the drug GCSF has any side effects on you, and
if you will make more stem cells in response to it. This trial is not a gene therapy trial.
This trial will not help your thalassemia.
- Subjects must be 18 years or older
- Subjects may be of either gender or of any ethnic background
- Subjects must have a confirmed diagnosis of ßthalassemia major and have been enrolled
in a hypertransfusion program with a confirmed annual transfusion of ≥ or = to 100
mL/kg/yr AND ≥ or = to 8 Transfusions of blood per year over a minimum of two years.
- Patients must be off hydroxyurea (HU) or erythropoietin (EPO) treatment for at least
three months prior to entry onto the study
- Subjects must have a performance score of Karnofsky > or = to 70 of the time of entry
into the study.
- Subjects must have a normal EKG and a normal chest xray
- Each patient must be willing to participate as a research subject and must sign an
informed consent form.
- Subjects must be splenectomized or have no palpable spleen
- Negative pregnancy test, if female
- Active infections including Hepatitis B and C, HTLV 1 and 2, West Nile Virus, and HIV
- Female patient pregnant or breast feeding
- Patients with uncontrolled seizure disorders
- Allergy to GCSF or bacterial E. coli products
- History of sickle cell disease or sickle trait
- History of thrombosis or known thrombophilia