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 tobring 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.

"These are very rare diseases, and no single center sees enough cases to do a large-scale study on its own, so collaboration is particularly important," Cowan added. "The formation of the Primary Immune Deficiency Treatment Consortium is a quantum step forward in optimizing care for all primary immunodeficiencies."

The 13 core pediatric centers in the consortium currently treat more than 60 percent of patients with primary immunodeficiencies in North America. A group of 19 smaller centers in the U.S. and Canada that actively treat these disorders and account for another 20 percent of patients also will participate in the research projects.

The consortium will receive $1.25 million each year for the next five years from the National Institute of Allergy and Infectious Diseases, a component of the National Institutes of Health. In addition to using the funds for research, the consortium will support two fellowships in primary immunodeficiency research at the postdoctoral level each year.

Scientific and administrative aspects of the consortium will be managed by a steering committee whose members include Cowan and Puck of UCSF, as well as Luigi Notarangelo, MD, a professor of pediatrics and pathology at Harvard Medical School; and Donald Kohn, MD, a professor of microbiology, immunology, molecular genetics and pediatrics at the University of California, Los Angeles and director of UCLA's Human Gene Medicine Program.

The additional core centers are Cardinal Glennon Children's Medical Center, Cincinnati Children's Hospital, Children's Hospital Boston, Children's Memorial Hospital, The Children's Hospital of Philadelphia, Children's Hospital Seattle, Duke University Medical Center, Memorial Sloan-Kettering Cancer Center, St. Jude Children's Research Hospital, Texas Children's Hospital, and the University of Minnesota Medical Center.

One of the nation's top children's hospitals, UCSF Children's Hospital creates an environment where children and their families find compassionate care at the healing edge of scientific discovery, with more than 150 experts in 50 medical specialties serving patients throughout Northern California and beyond. The hospital admits about 5,000 children each year, including 2,000 babies born in the hospital.

UCSF is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care.

Source:
Kate Schoen
University of California - San Francisco

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