Primary Immunodeficiency Diseases Research

Primary immunodeficiency diseases are rare, inherited disorders in which the immune system cannot protect the body from infections. St. Jude researchers are working to develop better treatments for children with primary immunodeficiency diseases.  

One major focus is severe combined immunodeficiency (SCID). This life-threatening condition is found in about 40 to 100 infants in the U.S. each year. We are also researching improved therapies for related diseases such as Wiskott-Aldrich syndrome (WAS).

St. Jude research centers on two main areas: improved approaches to bone marrow transplantation (BMT) and the development of gene therapies.

Bone marrow and stem cell transplantation

Many primary immunodeficiency diseases, including SCID, can be treated with bone marrow transplants or other types of hematopoietic stem cell transplantation (HCT). A successful transplant has the potential to cure a patient by restoring the body’s immune system.

The St. Jude Transplant Program is one of the largest pediatric programs of its kind in the world. More than 2,900 transplants have been performed at St. Jude since 1982.

To improve outcomes and reduce side effects, doctors in the St. Jude Transplant Program work closely with laboratory scientists to rapidly move new developments from the lab to patient care. The program conducts clinical trials to study these new innovations. Each year, more than 100 stem cell/bone marrow transplant procedures are performed at the hospital as part of clinical trials.

St. Jude treated its first SCID patient with a bone marrow transplant in 1989 and has since treated more than 30 patients with this rare disease. The Transplant Program is now developing a new clinical trial for patients with SCID. This trial will explore a new type of bone marrow transplantation using parents as donors when a matched sibling donor is not available. This approach is called haploidentical allogeneic transplantation.

Gene therapy for severe combined immunodeficiency (SCID)

Gene therapy treats genetic disease by “correcting” a defective gene with a healthy copy. St. Jude is pioneering novel gene therapy approaches for blood and immune cell diseases.

In gene therapy, new genetic material (DNA or RNA) is introduced into a patient’s cells, most often via a disabled virus called a vector. St. Jude has played a key role in vector development, producing new vectors for patients with the bleeding disorder hemophilia and SCID.

One advance has been an innovative vector for X-linked SCID, the most common form of SCID. The vector is manufactured in the on-site Good Manufacturing Practice (GMP) facility, which moves promising discoveries from St. Jude laboratories into our clinics.

The vector is produced using a new process developed at St. Jude. The process addresses the challenge of manufacturing large quantities of clinical-grade vector in a reproducible manner.

Clinical trials led by St. Jude and the National Institute of Allergy and Infectious Diseases (NIAID) are researching whether this vector can safely provide long-lasting health benefits to patients with X-linked SCID.

 

Primary Immune Deficiency Treatment Consortium

Primary immunodeficiency diseases can be difficult to study because they are so rare. To accelerate progress, leading hospitals and research centers are working together on research programs with large groups of patients. Key areas include newborn screening programs and the development of new treatments.

St. Jude is a member of the Primary Immune Deficiency Treatment Consortium (PIDTC), an organization of centers in North America focused on improving outcomes for these diseases. The PIDTC has developed a centralized registry for patients from across North America. Data from the registry will help physicians learn more about these diseases and how best to treat them.

One goal of the PIDTC is to learn whether newborn screening for SCID can improve outcomes by diagnosing immune problems earlier. The PIDTC also develops collaborative clinical studies and helps patients connect with experts and advocacy groups.

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