There are no drug treatments for approximately 95 percent of the nearly 7,000 identified rare diseases. There is, however, an FDA-approved cellular therapy option available for more than 80 rare diseases: cord blood transplants.
This toolkit provides an introduction on this treatment option, how the process works, and the resources available to learn more.
Many rare diseases impair the function of blood cells. Some of these are cancers, some are inherited conditions, and some are triggered by infections. But many of these can be treated with blood stem cell transplants, or the injection of blood-forming stem cells from a healthy donor into the body to replace damaged or diseased cells. Blood-forming stem cells are undifferentiated cells in the body that can give rise to specialized cells.
To learn more about stem cells and their unique properties, visit the National Institutes of Health.
Although the procedure of replenishing the body’s supply of healthy blood-forming cells is generally referred to as a stem cell transplant, it can also be known as a bone marrow transplant, peripheral blood stem cell transplant, or umbilical cord blood transplant, depending on the source of the stem cells.
A typical umbilical cord holds about two ounces of blood that is teeming with millions of stem cells. This cord blood is drawn out after the baby is born and the umbilical cord has been clamped. Neither the mother nor the baby will notice the process of collecting the cord blood.
Sarah Shaffer, co-president of the Mason Shaffer Foundation, has a son who was diagnosed with an extremely rare and life-threatening disease called Malignant Infantile Osteopetrosis. After her son received a cord blood transplant, the Mason Shaffer Foundation made it a goal to expand the network of qualified cord blood collection hospitals and provide education on the cord blood donation process.
“Once people hear stem cells, they immediately think embryonic. There is a misconception that donating cord blood will bring harm to either the child or the mother. This becomes less and less of a problem when they know more about cord blood. It is an educational challenge.”
Once harvested, the cord blood is rushed to a laboratory where the stem cells are extracted and cryogenically preserved.
Stem cells from cord blood can provide a successful transplant when the donor and patient only match at four out of six of their tissue types. That compares to the need for a six out of six tissue type match between donor and patient for bone marrow and peripheral blood transplants. Because people inherit their tissue types from their ancestors, patients who belong to minority or mixed racial groups may have a hard time finding a donor. Cord blood is expanding access to transplants for minority groups and is increasingly used for these patients.
Cord blood has the advantage that the stem cells are kept frozen in a bank where they can be quickly available to patients in need. And cord blood transplants can treat certain rare diseases, such as inherited metabolic disorders, where bone marrow transplants are not as effective.
To learn which rare diseases can be treated by a cord blood transplant, visit the Parent’s Guide to Cord Blood Foundation’s List of Diseases. The top of the page lists more than 70 diseases for which stem cell transplants are a standard, FDA-approved therapy. All of these diseases are rare in the United States.