NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies

Abstract

On April 10, 2020, the FDA approved selumetinib for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 who have symptomatic, inoperable plexiform neurofibromas. This, combined with the 2016 EXIST-3 data showing the efficacy of adjunctive everolimus in the treatment of tuberous sclerosis associated seizures, have resulted in the re-imagining of the treatment of these neurocutaneous syndromes and subsequently, the multidisciplinary clinics in which they are treated. In early 2021, this reshaping resulted in the launch of a unique, family-centered clinic at Yale New Haven Children’s Hospital serving children and young adults up to 30 years of age in the management of NF1, NF2, tuberous sclerosis and schwannomatosis. Here we present the clinical reasoning and benefit of a multidisciplinary, family-centered clinic that manages to combine on-site, real-time access to neuro-oncology, neurology, psychology, dermatology, orthopedics, genetics, and ophthalmology. We will describe how the collaboration of these specialists is essential for providing high-quality, easy-access care to patients and families with the above noted syndromes – particularly with the advent of effective, readily available targeted therapies that carry their own side effects requiring further subspecialty consultation. Furthermore, we will describe previous and ongoing challenges to the creation of such a clinic and offer solutions based on our experience.