Skip to main content

NF Bites: Progress in NF1 Bone Dysplasia

By April 6, 2010December 4th, 2023Awareness, NF1

Welcome to the third in a series of “NF Bites” – providing snapshots of individual areas of neurofibromatosis research and how the Children’s Tumor Foundation is advancing this. Over the coming days and weeks we will focus on different aspects of neurofibromatosis research. Today: where are we with NF1 bone dysplasia research progress?

Children with NF1 are at risk of developing bone abnormalities, most commonly affecting long bone growth and maturation. Fundamentally, bones can fail to heal after breakage and become a chronic health problem that may require amputation. Research into understanding bone dysplasias in NF1 has made significant progress in the last few years and interventional clinical trials though no currently ongoing are certainly on the horizon.

To accelerate collaboration and progress this area, in 2009 the Children’s Tumor Foundation published a consensus paper in American Journal of Medical Genetics that provided an overview of expert recommendations from a Foundation-convened workshop on management & therapeutic development for NF1 bone abnormalities.  The Foundation is also supporting model development and preclinical drug screening in this area:

·         Foundation Drug Discovery Initiative Awardee Florent Elefteriou (Vanderbilt University) utilized a mouse model of NF1 long bone dysplasia to test Lovastatin as a drug therapy to promote bone healing after break.  This research has advanced to developing a nanoparticle delivery approach so that drug can be delivered to the fracture as efficiently as possible, and was recently published in Journal of Bone and Mineral Research.


·         Foundation Young Investigator Awardee Aaron Schindeler (The Children’s Hospital at Westmead, Sydney, Australia) has developed another unique mouse model on NF1 long bone abnormalities and is also utilizing this to test candidate drug treatments.

Excitingly, planning is now underway for the first therapeutic clinical trials focused on NF1 bone dysplasia and will no doubt be a point of discussion at June’s 2010 NF Conference.

Look for more NF Bites in the coming days and weeks!