The University of California, San Francisco has been designated to lead a new consortium that will study a group of severe immune disorders known as primary immunodeficiencies and aims to improve treatment for these often life-threatening diseases. The Primary Immune Deficiency Treatment Consortium comprises 13 centers throughout the United States and has a $6.25 million funding commitment over five years from the National Institutes of Health.
Serving as the consortium's principal investigator is Morton Cowan, MD, chief of the Pediatric Blood and Marrow Transplant Program at UCSF Children's Hospital. According to Cowan, the participating centers all share the common goals of improving the diagnosis, treatment and survival rates for primary immunodeficiencies, which are caused by inherited genetic defects that result in a child being born either without any immune system at all or one that is seriously hampered in its ability to function.
"With this consortium we have an unique opportunity to bring together scientists, physicians and immunologists from centers throughout North America with expertise in and commitment to the diagnosis and management of serious immune disorders," said Cowan.
While there are more than 140 types of primary immunodeficiencies, each with its own distinct genetic mutations, the consortium will focus on a subset of three disorders that are representative of the entire group in terms of major diagnostic and treatment issues. Consortium researchers will study severe combined immunodeficiency, or SCID; Wiskott-Aldrich syndrome, or WAS; and chronic granulomatous disease, or CGD, both retrospectively, in patients who have already received treatment, and prospectively, by developing new clinical trials.
"It is our hope that this consortium will enable us to better understand these disorders so that we can more effectively treat patients and save lives," said Jennifer Puck, MD, a professor of pediatrics and human genetics and director of the Pediatric Clinical Research Center at UCSF Children's Hospital. Puck is a member of the consortium's steering committee and will oversee a pilot project to assess the effectiveness of a newborn screening test she has developed for SCID.
The consortium will focus on the treatment of the three disorders using hematopoietic stem cell transplantation, or HSCT. HSCT involves taking healthy blood stem cells from the bone marrow or peripheral blood of a healthy donor and intravenously transplanting the cells into a patient. When successful, the implanted cells repopulate the bone marrow and produce new healthy cells, resulting in a normally functioning immune system.
Currently, individual centers have their own approaches to administering HSCT for children with primary immunodeficiencies, which vary in terms of the timing of treatment, the source of donor cells, how the cells are processed and other key factors. Now with the consortium in place, clinical research data will be pooled so that a consensus for best treatment practices can be reached and protocols can be standardized and evaluated prospectively, Cowan explained.