Trial Information

Multicenter Study of Tibial Dysplasia in Neurofibromatosis Type I (NF1) Patients

The three specific aims of this study are:

- Specific Aim 1 - To assess health status and health - related quality of life (HRQL) in
50 children and adolescents with NF1 and tibial dysplasia and in NF1 controls. We
hypothesize that children and adolescents with NF1 and tibial dysplasia will experience
an additional burden of morbidity due to tibial dysplasia and a downward trajectory of
health status and HRQL over time.

- Specific Aim 2 - To assess the long term outcome of current treatment in 100 adult
patients diagnosed with NF1 and tibial dysplasia in childhood. We hypothesize that
better quality of life and function, in adults with NF1 and tibial dysplasia, are
associated with amputation in childhood compared to multiple surgical procedures, the
lack of fibular involvement, and fracture later in childhood. We also hypothesize that
individuals with NF1 and tibial dysplasia have a higher risk of other bony dysplasias
but are at no higher risk of fracture in other bones.

- Specific Aim 3 - To assess the natural history and short-term response to therapy in a
cohort of at least 60 children with NF1 and tibial dysplasia and at least 60 children
with tibial dysplasia presumably without NF1 prospectively diagnosed during the course
of the four-year study period. We hypothesize that NF1 patients with earlier
presentation, Crawford Class II A-C, male gender, and the lack of bracing prior to age
two are more likely to fracture. We also postulate that individuals with and without
NF1 have a similar outcome and response to treatment.

The results of this project will provide a rational basis for future clinical and
therapeutic trials.