Target Product Profile for Cutaneous Neurofibromas: Clinical Trials to Prevent, Arrest, or Regress Cutaneous Neurofibromas

Ina Ly; Carlos G Romo; Sally Gottesman; Kristen M Kelly; Deanna Kornacki; Zachary York; Sang Y Lee; Steven D Rhodes; Verena Staedtke; Matthew R Steensma; Jaishri O Blakeley; Pierre Wolkenstein

doi:10.1016/j.jid.2023.01.041

Target Product Profile for Cutaneous Neurofibromas: Clinical Trials to Prevent, Arrest, or Regress Cutaneous Neurofibromas

J Invest Dermatol. 2023 Aug;143(8):1388-1396. doi: 10.1016/j.jid.2023.01.041. Epub 2023 Jun 8.

Authors

Affiliations

¹ Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address: ily@partners.org.
² Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
³ Neurofibromatosis Therapeutic Acceleration Program (NTAP), Baltimore, Maryland, USA; Children's Tumor Foundation, New York, New York, USA.
⁴ Department of Dermatology, School of Medicine, University of California, Irvine, Irvine, California, USA.
⁵ Incyte Corporation, Wilmington, Delaware, USA.
⁶ Independent, Neurofibromatosis type 1 patient.
⁷ Division of Hematology/Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
⁸ Helen Devos Children's Hospital, Spectrum Health System, Grand Rapids, Michigan, USA.
⁹ Department of Dermatology, Henri Mondor Hospital, University Paris East Créteil, Créteil, France.

PMID: 37294242
DOI: 10.1016/j.jid.2023.01.041

Abstract

Cutaneous neurofibromas (cNFs) are benign tumors of the skin that affect >95% of adults with neurofibromatosis type 1. Despite their benign histology, cNFs can significantly impact QOL due to disfigurement, pain, and pruritus. There are no approved therapies for cNFs. Existing treatments are limited to surgery or laser-based treatments that have had mixed success and cannot be readily applied to a large number of tumors. We review cNF treatment options that are currently available and under investigation, discuss the regulatory considerations specific to cNFs, and propose strategies to improve cNF clinical trial design and standardize clinical trial endpoints.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Humans
Neurofibroma* / pathology
Neurofibroma* / therapy
Neurofibromatosis 1* / therapy
Pruritus
Quality of Life
Skin Neoplasms* / pathology