Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1

摘要: Despite considerable challenges, the management of children and adults with NF1 has rapidly entered therapeutic era. A multitude new agents are available which could potentially benefit patients, a clinical trial infrastructure is now in place to more effectively expeditiously study therapies. Almost all manifestations neurofibromatosis type 1 targets. Preclinical testing offers possibility identifying most likely positively alter outcome. Such preclinical work already been translated into trials for plexiform neurofibromas, gliomas, malignant peripheral nerve sheath tumors, even neurocognitive disorders. Clinical also being proposed skeletal dysplasia dermal neurofibromas. The potential benefits such need be carefully balanced against long-term toxicity caused by interventions realization that many lifelong conditions may require chronic treatment.