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UAB wins $5.7M neurofibromatosis grant

BIRMINGHAM, Ala. A team of UAB geneticists, doctors and biostatisticians has received $5.7 million from the U.S. Department of Defense to study and test new treatments for neurofibromatosis, or NF.

UAB is the lead research center in a nine-institution group called the NF Consortium. The coalition formed more than two years ago to design and manage multiple clinical trials held across the nation looking at new and more effective therapeutic options for adults and children diagnosed with NF.

The $5.7 million award will be shared among the NF Consortium members, with UABs research team serving as the operations center and distribution point for the government funds.

Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and an internationally recognized expert in neurofibromatosis type 1, said the goal of the consortium is to streamline and improve the way clinical trials are performed for this disease, and to break down past barriers to discovering and testing cutting-edge NF treatments.

We expect results from the NF Consortium studies to provide a wider range of therapeutic options for patients with the goal of reducing the rates of tumor growth, and improving quality of life, Korf said.

By monitoring not only the clinical outcomes, but the effects of therapies on molecular targets, it will be possible to better understand NF as a disease, he said.

The other eight participating institutions are Childrens Hospital Boston, Childrens Hospital of Philadelphia, Childrens National Medical Center in Washington, D.C., Cincinnati Childrens Hospital Medical Center, Washington University in St. Louis, the University of Chicago, the University of Utah in Salt Lake City, and the National Cancer Institute in Bethesda, Md.

Often diagnosed in childhood, NF is a hereditary condition that causes tumors to grow on nerve tissue that affects many bodily systems. As the tumors grow, they can press on vital areas and lead to deformities, high blood pressure, scoliosis, speech impairment, early or delayed puberty, blindness and other medical problems. About 10 percent of NF type 1 cases lead to cancer.

The recent $5.7 million grant is in addition to $2.9 million awarded two years ago to start the NF Consortium. The recent award will be used to put the groups scientific plans into action, said Jeannette Y. Lee, Ph.D., a biostatistician and professor in the UAB School of Medicine. Lee directs the NF Consortium operations center and serves as the grants overall principal investigator.

Lee said three clinical trials will be the focus of the consortiums first studies. These include:

  • A study of the immunosuppressant drug sirolimus (rapamycin) to treat plexiform neurofibromas, a condition where nerves become thick and misshapen due to abnormal cell and tissue growth.

  • A study comparing a cholesterol-lowering drug (lovastatin) versus no lovastatin treatment in adult and teen NF patients to see if cognitive function can be improved.

  • A pair of studies to evaluate chemotherapy, used by itself and in various therapy regimens, to treat human cancerous tumors associated with NF. Such tumors can grow and damage the nerve sheath, and they can appear as gliomas in and around the optic nerve.

In addition to managing the NF Consortium operations center, UAB will be enrolling adults and children in NF clinical trials and monitoring their treatment and health status. Alyssa Reddy, M.D., an associate professor in the UAB Department of Pediatrics will coordinate the NF1 treatment clinic.

The Department of Defense grant comes through the Congressionally Directed Medical Research Programs (CDMRP), which grew from a grassroots advocacy and U.S. military partnership that formed in the early 1990s. To date CDMRP has managed Congressional appropriations totaling $4.36 billion in dozens of research areas, including neurofibromatosis.


Contact: Troy Goodman
University of Alabama at Birmingham

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