Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials

Clin Trials. 2024 Feb;21(1):40-50. doi: 10.1177/17407745231203330. Epub 2023 Oct 31.


Introduction: Neurofibromatosis 1 and schwannomatosis are characterized by potential lifelong morbidity and life-threatening complications. To date, however, diagnostic and predictive biomarkers are an unmet need in this patient population. The inclusion of biomarker discovery correlatives in neurofibromatosis 1/schwannomatosis clinical trials enables study of low-incidence disease. The implementation of a common data model would further enhance biomarker discovery by enabling effective concatenation of data from multiple studies.

Methods: The Response Evaluation in Neurofibromatosis and Schwannomatosis biomarker working group reviewed published data on emerging trends in neurofibromatosis 1 and schwannomatosis biomarker research and developed recommendations in a series of consensus meetings.

Results: Liquid biopsy has emerged as a promising assay for neurofibromatosis 1/schwannomatosis biomarker discovery and validation. In addition, we review recommendations for a range of biomarkers in clinical trials, neurofibromatosis 1/schwannomatosis-specific data annotations, and common data models for data integration.

Conclusion: These Response Evaluation in Neurofibromatosis and Schwannomatosis consensus guidelines are intended to provide best practices for the inclusion of biomarker studies in neurofibromatosis 1/schwannomatosis clinical trials, data, and sample annotation and to lay a framework for data harmonization and concatenation between trials.

Keywords: Biomarker; cell-free DNA; consensus guidelines; cytokines; liquid biopsy; neurofibromatosis; open science; schwannomatosis.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Biomarkers
  • Humans
  • Neurilemmoma*
  • Neurofibromatoses* / diagnosis
  • Neurofibromatoses* / pathology
  • Neurofibromatoses* / therapy
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 2* / diagnosis
  • Neurofibromatosis 2* / pathology
  • Skin Neoplasms*


  • Biomarkers

Supplementary concepts

  • Schwannomatosis