Benefit # 29 (of 71) of the California Stem Cell Research Program: FIGHTING THE ATM DISEASE

Do you know those ATM machines in front of banks, where people go to make deposits or withdrawals of money?

What if there was an ATM which collected blood—you stick your arm in a slot and a needle pokes and some blood is taken out and new blood put in?

There isn’t any such ATM, of course.

But there is a disease with those initials, (ATM) Alpha Thalassemia Major and it does require transfusions of blood—every month for as long as you live.

Think of that; twelve times a year you must set up a medical appointment, endure the stick of needles in your arm, pay the endless medical bills—and that is if a compatible blood supply is available.

There may be complications. Too many blood transfusions concentrate iron in your body, building up around heart, liver and lungs; this must be removed by a process called chelation.

And that is for the survivors, those lucky enough to live 20-30 years.

For others, death may come in the womb itself.

ATM “is so severe that affected fetuses will develop anemia due to the lack of functioning red blood cells …(which) can lead to heart failure…”

A disease which kills unborn children, and which may make the mother sick as well? Thalassemia must be fought.

With the aid of a major grant ($12.1 million) from the California Institute for Regenerative Medicine (CIRM, the California stem cell program), Dr. Tippi Mackenzie, MD, is taking on this challenge.

She has been preparing for this moment for many years. Not only is she an associate professor in Pediatric Surgery at the University of California at San Francisco (UCSF), but she is also co-Director of the UCSF Center for Maternal-Fetal Precision Medicine.

Her approach? Dr. MacKenzie intends to take stem cells from the bone marrow of the pregnant mother, and inject them into the fetus—while it is still in the womb.

The advantage is clear. The mother’s genetic makeup will not be rejected by her child, thereby allowing the benefits of her stem cells.

This will be a clinical trial: a safety test. The outcome is not clear. But the risks of doing nothing are plain. This is a nightmare condition.

ATM threatens literally millions.

Once called the “Chinese disease” for its prevalence among Asians, ATM is “one of the most common single-gene disorders world-wide, affecting approximately 5% of the population, with prevalence the highest in China, South East Asia, Africa, the Middle East, and India”—and also those of Mediterranean descent—that is a lot of people!

Possibilities are both practical— and quite wonderful.

First, the practical: many doctors are not even aware that a simple blood transfusion can save the life of the unborn child, otherwise at risk of dying before birth.

He or she will need to have blood transfusions every 3-4 weeks for life, but at least they will be alive.

And the “quite wonderful”?

“UCSF Benioff Children’s Hospital Oakland and the Center for Maternal-Fetal Precision Medicine have begun enrollment for a clinical trial that will test the safety of combining in utero hematopoietic stem cell transplant with a fetal transfusion of red blood cells.

“This combination is aimed at treating, and possibly curing, Alpha Thalassemia Major (ATM) a blood disease that is often fatal in utero. This trial is the first of its kind in the world, and could also lead to treatments for other life-threatening blood diseases, such as sickle-cell anemia…”

Here are the three choices:

1. Doing nothing, which may lead to death for the fetus and severe pregnancy complications for the mother:

2. Before-birth blood transfusions which may save the life of the baby,although he/she will probably need to be on transfusions for life;

3. Before birth stem cell transfusion, which may cure the child altogether.

For more information, check this out.

Godspeed, Dr. MacKenzie: may you save the lives of unborn millions.

This post originally appeared on HuffPost.

Don C. Reed is Vice President of Public Policy for Americans for Cures, and he is the author of the forthcoming book, CALIFORNIA CURES: How California is Challenging Chronic Disease: How We Are Beginning to Win—and Why We Must Do It Again! You can learn more here.