Neurofibromatosis Research UAB Bolstered by $7 Million Grant

Last month, the University of Alabama (UAB) received some really great news as they were awarded a $7 million grant. This new funding will allow the university to continue conducting clinical trials for neurofibromatosis. UAB has established themself as a leader in conducting trials to treat neurofibromatosis, as well as several other rare, genetic diseases.

The university has been playing a key role as the data management site for the clinical trials in Alabama, as well as the operations center for the clinical research consortium. Along with the other members of the consortium, UAB has also been helping to recruit new participants for neurofibromatosis trials at 11 other medical centers around the US plus one more in Australia.

The principal investigator for the consortium is Dr. Bruce Korf, the head of the UAB genetics department. According to Dr. Korf, the collaboration is essential, because no single center is able to accommodate enough participants to test a scientifically significant sample. This is an excellent example of the use of collaborative science in order to advance towards a unified goal. However, as Dr. Korf puts it, you will always need someone to be steering the ship.

In the state of Alabama, there are nearly 1,000 people who are affected by neurofibromatosis (it is a rare disease). Clinical research has shown us that when the disease is inherited, the nerve tissue will grow into tumors. Fortunately, these tumors are often benign, but the growths may cause discolored skin and disfiguring bumps. Even more serious cases can cause learning disorders or skeletal issues, and the growths can start to press on the spinal nerves. Patients with type 2 neurofibromatosis and schwannomatosis (both related diseases) may experience vertigo, a loss in hearing, pain, and develop tumors.

Dr. Korf actually first became intrigued with neurofibromatosis almost 25 years ago, when he was living in Boston. He met with surgeons who had performed operations to remove these growths from patients. Some of these surgeons thought that these procedures were an inappropriate treatment for these patients. When looking at the big picture, the actual cause of the neurofibromatosis and how it should be treated were not being addressed in these earlier operations.

Now, medical researchers are aware of the specific genes which are being mutated in these diseases. In healthy people, the non-mutated genes work as tumor suppressors, so they are now testing two drugs, which have been used to treat cancer (everolimus and rapamycin), to see how effective they are with neurofibromatosis. The consortium received its first funding in 2007 from the Department of Defense, and the two clinical trials were launched immediately after. Then there was a third clinical trial which tested the effectiveness of statin in reducing learning disabilities in children with type 1 neurofibromatosis.

An additional fourth clinical trial was planned after the first round of federal funding, but it has yet to begin recruiting participants. However, now with this new $7 million grant, the consortium plans on adding another four clinical trials on top of that. To date, none of the clinical trials undertaken have been completed.

The analysis and data management for the consortium has been overseen by Gary Cutter, director of the Research Methods and Clinical Trials section in the UAB School of Public Health’s biostatistics department. Interestingly, Dr. Korf has stated that he chose UAB as the original operation’s center, because he was worried that no other school would be willing to undertake such a painstaking role.

For the record, the other current members of the Consortium are Children’s Hospital of Los Angeles, Children’s National Medical Center, Harvard University, Cincinnati Children’s Hospital, the University of Chicago, the University of Pennsylvania, Washington University, the National Cancer Institute, the University of Chicago, the University of Utah, New York University Medical Center, the University of Indiana, and Children’s Hospital at Westmead, in Sydney, Australia.


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