Designing clinical trials for cutaneous neurofibromas, an unmet medical need for patients with neurofibromatosis 1

Massachusetts General Hospital, Boston MA

Investigators

Abstract

Project Summary Neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis are a group of related neurogenetic tumor suppressor syndromes that share a predisposition to develop benign and malignant nerve sheath tumors. Because most tumors encountered in patients with NF1, NF2, and schwannomatosis are histologically benign, overall survival is not an appropriate clinical trial outcome for these patients. The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration was developed in 2011 to provide recommendations for clinical trial endpoints for neurofibromatosis. REiNS consists of specialists and patient representatives from multiple countries and disciplines dedicated to the study of neurofibromatosis, schwannomatosis, and clinical trials. REiNS holds an annual conference during the winter in which recommendations for clinical trial outcomes are discussed and finalized. REiNS has been extremely productive with multiple endpoints for clinical trials already recommended, published in peer reviewed journals, and incorporated in ongoing clinical trials. Despite this progress, consensus endpoints for the most burdensome manifestations of NF, particularly for cutaneous neurofibromas (cNFs), have not been developed by the clinical trial community. This year, the Leadership Group of REiNS has chosen ?Designing Clinical Trials for Cutaneous Neurofibromas, An Unmet Medical Need for Patients with Neurofibromatosis Type 1? as the topic for the 2018 conference. The winter meeting will follow our prior successful format by including expert speakers from the Food and Drug Administration (FDA), patient advocacy groups, and working groups within REiNS that are pertinent to the development of endpoints for cutaneous neurofibromas. This year, we will also include patient representatives to foster improved feasibility and acceptability of outcome measures within clinical trials. The ultimate goal of this conference is to develop consensus guidelines for clinical trials in cutaneous neurofibromas from the international NF community.