Testing a Novel Therapy to Treat NF1-Related Skeletal Defects
Abstract
Children with Neurofibromatosis Type 1 (NF1) suffer sequelae with varying effects on their quality of life. The most highly morbid pediatric skeletal abnormality is congenital tibial dysplasia that progresses to pathologic fracture. The fracture fails to heal and forms a persistent non-union (pseudoarthrosis, PA), frequently requiring amputation despite surgical attempts to heal the bone. Anticipating these problems, pediatric orthopaedic surgeons often recommend amputation at initial presentation; conversely patients and their parents may request amputation after suffering multiple years of failed surgeries. It is clear that therapeutic strategies are needed to improve fracture healing in children and improve their quality of life. In support of this, the DOD recently funded a clinical trial to test the (controversial) efficacy of recombinant human bone morphogenic protein 2 (rBMP2, INFUSE) to improve fracture healing in children with tibial PA (NCT02718131). The goal of our lab is to identify and experimentally test novel, evidence-based therapies.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2020
- Accession Number
- AD1125023
Entities
People
- Jonathan J. Rios
Organizations
- Scottish Rite for Children
- University of Texas at Dallas