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CTF Convenes International Experts to Plan NF1 Bone Dysplasia Trials

By April 8, 2011December 18th, 2023Awareness, NF1, Science & Research

Bone abnormalities can occur in NF1, including scoliosis in the spine, and  bowing of the long bones in the legs. These can have  a major impact on quality of life requiring multiple surgeries and in the case of long bone bowing can require amputation.  Today surgery is the primary treatment for NF1 bone dysplasias. The good news is that scientists are learning more about the underlying biology of bone abnormalities and figuring out what drugs might help with treating them.  CTF has funded a good bit of this research through our Young Investigator Award and Drug Discovery Initiative (DDI) Award programs leading to development of new mouse models of bone abnormalities and initial studies to test drugs including Lovastatin in these mice.
Yesterday and today, CTF has convened in New York City an international expert summit of clinicans and scientists from Australia, the United Kingdom, Canada and the United States to plan how we can build on what we know to get drugs into clinical trials for bone dysplasia, to improve the outcome of current surgical management.  The summit is co-chaired by Dr. David Stevenson, University of Utah; and Dr. Florent Elefteriou, Vanderbilt University and a former CTF Young Investigator and DDI Award recipient.
This is the second in a series of bone dysplasia summits convened by CTF. The last, held in February 2008, led to the publication of a state-of-the-art report in the American Journal of Medical Genetics in 2009.