Stem Cell Transplantation in Scleroderma: A Treatment Whose Time May Be Coming

By Daniel Furst, M.D. (originally published in "Scleroderma Voice," 2003 #2)

In approximately 1996, the idea occurred to several of us, on three separate continents, that stem cell transplantation might be both an effective therapy for the right patient with systemic sclerosis and a way to test how important the immune system might be in the disease. That sentence needs a good deal of explanation.

What is stem cell transplantation?

Stem cell transplantation is a treatment in which we take either the patient's own cells (in which case the process is called "autologous") or a close relative's cells (called "allogeneic") and give them back to the patient after the patient's immune system has been removed as much as possible. The idea is that one removes the cells that are doing harm and allows a new immune system to develop in the presence of scleroderma. In this case, the new immune system sees scleroderma as "normal" and does not react against itself—so the body can heal.

To date, most stem cell transplantation for scleroderma has been done with the patient's own cells (autologous transplantation) because it is somewhat safer than the allogeneic transplantation.

The process requires the removal of "stem cells" from the blood; these are the cells from our bone marrow which can become all parts of our immune system and which float around in our blood in small numbers.

The removal of these undifferentiated cells is called "mobilization," and can be done using a variety of medications and procedures. In autologous stem cell transplantation, we take the patient's own cells, and give them back to the patient after removing the immune system as much as possible.

After that, high-dose immunosuppressive therapy, sometimes combined with proteins and/or radiation therapy which kills immune cells, is used to get rid of the body's abnormal immune system; this is called "conditioning." Again, numerous medications and combinations of approaches can be used.

Finally, medication is given to stimulate the new cells for faster recovery. It is as if the new immune system is that of a little child's; and, in fact, patients who undergo stem cell transplantation need revaccination after a year or so, just as if their immune system was a child's.

Where did the idea of using stem cell transplantation in scleroderma start?

Animal experiments indicated that bone marrow transplantation or stem cell therapy of autoimmune disease might be helpful, because when done in certain ways, it could cause complete remission of the autoimmune disease in these animals.

In addition, there were some patients who had autoimmune diseases such as rheumatoid arthritis or systemic lupus erythematosus and who also had cancers which required bone marrow transplantation. With transplantation, the autoimmune disease went into long-term remission. This, and the animal data, made us and others think that stem cell transplantation might be useful in scleroderma.

Ten to 15 years ago, most stem cell transplantation was actually called bone marrow transplantation. This is because at that time bone marrow was used for the transplantation.

New technology has allowed us to remove stem cells from the blood using machines similar to dialysis machines; this is safer and easier and is actually "stem cell transplantation" rather than bone marrow transplantation.

Who is the "right" patient? Who should be given stem cell transplantation for scleroderma?

Of course, this therapy is still experimental, and much still needs to be done. In general, because this is a dangerous procedure (see below), only the patients who will, predictably, do very poorly should undergo this therapy. Thus, stem cell transplantation, at this time, needs to be reserved only for those patients who have a great deal of skin involvement and internal organ involvement (particularly the lungs or kidneys) and whose disease duration is less than four years. These are patients whose likelihood of survival after five years is less than 50% and are there fore, the sickest patients.

On the other hand, patients must, in general, be healthy otherwise and not have "too much" internal organ involvement so they can tolerate the treatments.

Thus, we estimate that no more than 5% to 15% of patients who have early systemic sclerosis should consider stem cell transplantation for their scleroderma.

What has been done so far?

Most stem cell transplantation thus far has been autologous. An excellent co-operative effort is ongoing between researchers in North America and in Europe and there have been over 100 transplants done, overall, in patients with scleroderma.

In Europe, a number of different regimens had been used but, in general, mobilization is now done using cyclophosphamide (Cytoxan) and a stimulatory medication called GCSF. Conditioning uses high doses of cyclophosphamide and another immunosuppressive medicine called ATG.

In the United States, mobilization does not use cyclophosphamide and less cyclophosphamide is used during conditioning; on the other hand, increased immunosuppression is achieved using radiation in moderately low doses, as well as the ATG. These two sets of regimens are going to be compared, so that we can tell which one will be better.

There is a registry in Europe which records the different regimens used and the general outcomes. The most recent publication was in 2002 and listed the 66 patients with scleroderma who were treated through the middle of 2001.

In these cases, there were three mobilization regimens and seven different conditioning regimens, so the results cannot be considered in terms of "stem cell transplantation" but rather in terms of a general approach of high-dose immunosuppressive therapy followed by stem cell rescue.

Using this mixed group of treatments, 50% of patients registered improvement, another 15% initially improved but later relapsed, 2% did not respond, and 5% worsened. Thirteen percent of patients died from either their underlying scleroderma or the complications of treatment.

In the United States, there have been approximately 30 stem cell transplants in scleroderma patients. These patients have all undergone the same stem cell transplants therapy and so can be examined more closely.

While this is an open study and subject to the biases of such a study, there has been an approximately 40% improvement in skin score and an impressive 90% improvement in ability to function.

It is also encouraging that internal organs such as the lungs and kidneys have remained stable, while one would have expected them to worsen with many other treatments over the 1 to 3 years of follow-up. As in Europe, about 13% of patients died.

Yes, but ... given that these particular patients would have done extremely badly without stem cell transplantation, the results thus far are quite encouraging.

On the other hand, what about side effects?

When this therapy was initially started, some of the problems arose because treatment was too aggressive.

In Europe, a few patients died during mobilization, possibly related to too much cyclophosphamide or to their underlying disease.

In the United States, the combination of radiation and cyclophosphamide was too much for two patients and they died. Since the radiation has been decreased, the patients have had no significant problems of this sort. However, one patient in the United States died when a particular form of ATG was used and the patient developed a very aggressive form of lymphoma.

During the initial two to three weeks of therapy, the body's immune system is nonfunctional, so we have to be extremely careful about infections. For example, if a visitor has a cold, they are not even allowed on the same floor with the patient undergoing transplantation.

Also, as mentioned above, the patient's immune system doesn't come back to normal for a number of months and they have to be careful for approximately a year before they can go out into normal crowded conditions.

In fact, during the first two to three months, they are asked to stay near the hospital where they had their transplantation and they are checked every two to three days to be sure that they are all right. This means they may need to stay in an apartment near the hospital and away from their home for several months.

Summary

Stem cell transplantation is a very hopeful therapy in patients with very severe systemic sclerosis. This treatment may be able to significantly improve the quality of life and longevity of patients with the severest form of this disease. On the other hand, stem cell transplantation is dangerous, and we are only in the beginning stages of learning how to use it to its best advantage and how good it really is.

For those interested in this study, you may contact the author:

Daniel Furst, M.D.
1000 Veteran Avenue
Room 32-59
Los Angeles, CA 90025