What is neurofibromatosis research?

Neurofibromatosis research studies the diagnosis, treatment, and clinical trial endpoints for NF1, NF2-SWN, and schwannomatosis. The REiNS International Collaboration standardizes response criteria and outcome measures so that clinical trials across these conditions can be compared and combined.

What is the REiNS International Collaboration?

REiNS (Response Evaluation in Neurofibromatosis and Schwannomatosis) is an international research collaboration that develops standardized clinical trial endpoints and outcome measures for neurofibromatosis and schwannomatosis, organized into working groups covering imaging, patient-reported outcomes, functional outcomes, visual outcomes, neurocognitive outcomes, disease biomarkers, cutaneous neurofibromas, gene therapy, and artificial intelligence.

What conditions does REiNS neurofibromatosis research cover?

REiNS research covers NF1, NF2-SWN (schwannomatosis related to NF2), and non-NF2 schwannomatosis, focusing on clinical trial endpoints and outcome measures such as imaging endpoints, patient-reported outcomes, functional and visual outcomes, neurocognitive measures, and disease biomarkers.

What outcome measures are recommended for cutaneous neurofibroma clinical trials?

The REiNS Cutaneous Neurofibromas working group recommends endpoints and outcome measures for cNF clinical trials including measurement techniques such as high-frequency ultrasound, 3D photography, and digital calipers, as well as biomarker guidance and quality-of-life measures such as the Skindex dermatology questionnaire.

How is the REiNS collaboration developing a core outcome set for cutaneous neurofibromas?

The REiNS Cutaneous Neurofibromas working group is conducting a Delphi study to develop a core outcome domain set defining the minimum set of outcomes to be measured in cNF clinical trials. A candidate list was generated through systematic literature review, patient focus groups, and international expert consultations to ensure uniformity and allow comparison of treatment effectiveness across trials.

Working Groups

Cutaneous Neurofibromas

Research priorities for cutaneous neurofibromas and recommendations for endpoints, trial designs, and outcome measures.

Leadership

Co-Chair

Kavita Sarin, MD PhD

Stanford University

Co-Chair

Laura Fertitta, MD

Henri Mondor Hospital, France

About This Group

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. There is no effective medical therapy for cNFs, and current management is limited to surgical removal. Substantial progress has been made in understanding the biology of neurofibromas, which may allow for the acceleration of effective therapies. Goals of the cNF working group include the identification of research priorities for cNFs and the development of recommendations for endpoints, designs, and outcome measures for clinical trials directed at cNFs.

Current group leaders: Laura Fertitta, MD & Kavita Sarin, MD PhD

Current Project —

The Cutaneous Neurofibroma (cNF) Working Group is composed of clinicians, researchers, people with NF1, and representatives. Currently, the group is working on defining a core outcome measurement set for cNFs in NF1. It is also focusing more specifically on detecting and quantifying nascent cNF. In parallel, the group is investigating cNF and plexiform neurofibroma responses to hormones, diet, and environmental factors.

Last updated: 09/22/2026

Additional Information

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Working Group Snapshot & Focus Updates

The Cutaneous Neurofibroma Working Group is composed of clinicians, researchers, people with NF1, and representatives. Currently, the group is working on defining a core outcome measurement set for cutaneous neurofibromas (cNF) in NF1. It is also focusing more specifically on detecting and quantifying nascent cNF. In parallel, the group is investigating cNF and plexiform neurofibroma responses to hormones, diet, and environmental factors.

Posted by laura.fertitta

Publications & References

Publication 1 · 2024

A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials

Br J Dermatol . 2024 Jan 23

PubMed

Publication 2 · 2021

Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research

Deeann Wallis, Anat Stemmer-Rachamimov, Sarah Adsit, Bruce Korf, Dominique Pichard, Jaishri Blakeley, Kavita Y.Sarin. Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research. Neurology 2021. Aug 2021; 97 (7 Supplement 1) S42-S49; DOI:10.1212/WNL.0000000000012426

Neurology.org

Publication 3 · 2021

Validating Techniques for Measurement of Cutaneous Neurofibromas

Raquel D. Thalheimer, Vanessa L. Merker, K. Ina Ly, AmandaChamplain, Jennifer Sawaya, Naomi L. Askenazi, Hamilton P.Herr, Jennifer L.W. Da, Justin T. Jordan, Alona Muzikansky, Elizabeth Morehouse Pearce, Fernanda H.Sakamoto, Jaishri O.Blakeley, R. Rox Anderson, Scott R. Plotkin. Validating Techniques for Measurement of Cutaneous Neurofibromas. Neurology 2021. Aug 2021; 97 (7 Supplement 1) S32-S41; DOI:10.1212/WNL.0000000000012428

Neurology.org

Publication 4 · 2021

Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1

Sheilagh Maguiness, Yemima Berman, Nathan Rubin, MelissaDodds, Scott R. Plotkin, Claire Wong, ChristopherMoertel. Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1. Neurology 2021. Aug 2021; 97 (7 Supplement 1) S25-S31; DOI:10.1212/WNL.0000000000012427

Neurology.org

Publication 5 · 2021

Perspective of Adults With Neurofibromatosis 1 and Cutaneous Neurofibromas

Ashley Cannon, Dominique C. Pichard, Pamela L. Wolters, SarahAdsit, Gregg Erickson, Andrés J. Lessing, Peng Li, Whitney Narmore, Claas Röhl, Tena Rosser, Brigitte C. Widemann, Jaishri O. Blakeley, Scott R. Plotkin. Perspectives of Adults with Neurofibromatosis 1 and Cutaneous Neurofibromas. Neurology 2021. Aug 2021; 97 (7 Supplement 1) S15-S24; DOI:10.1212/WNL.0000000000012425

Neurology.org

Documents & Resources

Adult CNF Survey

This survey is used to assess the perspective of adults with Neurofibromatosis Type 1 regarding cutaneous neurofibromas for designing clinical trials. The results of this anonymous survey will be published in an upcoming Neurology supplement of REiNS manuscripts.

ResourcePDF Document

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