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Project

Periosteal cell therapy as a new treatment of pseudarthrosis in children with NF1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with aprevalence of 1 in 2000. About 5% of NF1 patients present with (congenital) bowing of a long bone resulting in pseudarthrosis, usually unilaterally. In most cases the congenital pseudarthrosis (PA) affects the tibia and the pathogenesis of this condition is currently unknown. 
Diverse treatment options for the NF1-related PA are available. Individuals with NF1 are however susceptible to recurrent fractures and if bridging of the CPA remains elusive or recurrent fractures occur, amputation of the affected limb is oftentimes the only option. 
To gain more insight into the pathogenesis underlying NF1-related PA, we studied pseudarthrosis cells and periosteum cells of the affected limb for their NF1 status and also studied the functional effect of NF1 inactivation on these cells. Furthermore, we attempted to model the genetics of NF1-related PA in mouse models, this was however not successfull. 

Date:21 Oct 2013 →  10 Dec 2019
Keywords:Neurofibromatosis type 1, Tibial bowing, Non-union, NF1, Congenital pseudarthrosis, Periosteum, Cell therapy, Refracture
Disciplines:Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing
Project type:PhD project