The Children's Tumor Foundation (CTF) has launched a global initiative to develop evidence-informed, consensus-based recommendations for the diagnosis of neurofibromatosis type 1 (NF1) and all forms of schwannomatosis (SWN, including NF2-related schwannomatosis, or NF2-SWN), and for the management of their associated manifestations. The approach to care for individuals with NF1 and SWN varies widely worldwide. The goal of this initiative is to curate existing evidence to align recommendations and efforts to improve care for all individuals with NF1 and SWN worldwide.

This multi-year initiative will focus on formulating clinical care recommendations that are:

• Feasible to implement by healthcare providers
• Informed by available medical literature
• Multidisciplinary to reflect current practice of the multi-system manifestations of NF1 and SWN
• Consensus-based to provide representation by various stakeholders
• Globally focused, respecting differences of systems, culture, practices, and technology across countries and regions
• Guided by an oversight committee to be a respected and trustworthy resource
• Useful to support adoption and support by third-party payers and regulators

The completed recommendations will be disseminated globally through NF advocacy groups, medical conferences, and peer-reviewed publications. They will be available in multiple languages. Recognizing that the development of clinical care recommendations for all aspects of NF1 and SWN is a significant undertaking, the initiative is divided into phases. The first phase focuses on recommendations for genetic testing in NF1 and SWN. Future phases will address other key areas of clinical care. For each phase, specific expertise will be sought to analyze and synthesize the available evidence pertinent to the topic.

Steering Committee

• Scott Plotkin, MD, PhD, Massachusetts General, Boston, MA, US - Chair of the Oversight Committee
• Amedeo Azizi, MD, Medical University of Vienna, Austria
• Jaishri Blakeley, MD, Johns Hopkins Medicine, Baltimore, MD, US
• Ignacio Blanco, MD, PhD, Germans Trias Hospital, Barcelona, Spain
• Rosalie Ferner, MD, FRCP, Guy's and St. Thomas', London, England
• Alicia Gomes, MS, CGC, University of Alabama, Birmingham, AL, US
• Kate Kelts, RN, Children's Tumor Foundation, US
• Eric Legius, MD, KU Leuven, Belgium
• Heather Radtke, MS, CGC, Medical College of Wisconsin, Milwaukee, WI, US