Working Groups
Ten specialized groups developing consensus outcome measures for NF1, NF2-related schwannomatosis, and schwannomatosis clinical trials.
Patient Reported Outcomes
We recently completed our review and recommendations for patient-reported outcomes to evaluate disfigurement for NF clinical trials (see Publications below). Currently, we are exploring patient-reported outcomes for assessing anxiety and depression. We also have a subgroup working on identifying outcome measures to assess hearing and communication.
View Full Group PageFunctional Outcomes
The functional group is currently working on determining the best way for people with NF2-SWN related hearing loss to measure their hearing at home to help facilitate future decentralized trial designs. In addition, we are continuing to work towards additional ways to assess bone health in people with NF1.
View Full Group PageImaging
The goal of the Imaging working group is to generate standardized consensus recommendations for both localized and whole body magnetic resonance (MR) image acquisition and interpretation for the detection, characterization and imaging response evaluation of benign and malignant neoplasms, using a multi-parametric and volumetric analysis.
View Full Group PageVisual Outcomes
The goal of the visual outcome working group is to define the best outcome measures for use in clinical trials of NF1 associated optic pathway gliomas (OPG). Our group assesses psychophysical components of vision, other ophthalmologic elements affected by OPG, potential biomarkers of visual function, and quality of life measures to arrive at consensus-based, evidence-driven recommendations.
View Full Group PageNeurocognitive Outcomes
The group is currently working on reviewing measures related to social skills, including social communication, social cognition, and social motivation.
View Full Group PageDisease Biomarkers
The goal of the biomarkers working group are to assess biomarkers collected from blood, urine, and tissue samples for their utility in NF clinical trials. Our group works to (1) define biomarker needs and summarize existing data in NF1, NF2, and Schwannomatosis; (2) outline recommendations for sample collection and biomarker development; and (3) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures. Click Here for a Working Group Snapshot
View Full Group PageCutaneous Neurofibromas
Cutaneous neurofibromas (cNF) are benign peripheral nerve sheath tumors and a hallmark feature of NF1. While cNFs do not undergo malignant transformation, disfigurement and associated pruritus may significantly impact quality of life.
View Full Group PageGene Therapy
The Gene Therapy group was formed in January 2022 and will start by defining goals for the year. Initial projects will focus on defining the important ethical issues surrounding gene therapy in the NF/SWN patient population. `last updated by Lessing, A on Dec 12, 2025`
View Full Group PagePatient Representatives
Managing patient representative recruitment, education (curriculum development), and dissemination (accessible publication summaries) through three active subcommittees.
View Full Group PageArtificial Intelligence
Newly formed group exploring AI-driven endpoints and methods for NF1, NF2-related schwannomatosis, and schwannomatosis clinical trials.
View Full Group PageJoin a Working Group
Membership is open to all interested parties, including patient advocates and funding agency representatives. Meetings are primarily held by teleconference with in-person meetings twice per year.