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

R. Taylor Sundby*, Steven D. Rhodes, Edina Komlodi-Pasztor, Herb Sarnoff, Vito Grasso, Meena Upadhyaya, Ae Rang Kim, D. Gareth Evans, Jaishri O. Blakeley, C. Oliver Hanemann, Chetan Bettegowda

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

<jats:sec><jats:title>Introduction</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p> 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. </jats:p></jats:sec>
Original languageEnglish
Pages (from-to)40-50
Number of pages11
JournalClinical Trials
Volume21
Issue number1
Early online date31 Oct 2023
DOIs
Publication statusPublished - Feb 2024

ASJC Scopus subject areas

  • Pharmacology

Keywords

  • Biomarker
  • cell-free DNA
  • consensus guidelines
  • cytokines
  • liquid biopsy
  • neurofibromatosis
  • open science
  • schwannomatosis
  • Neurofibromatosis 1/diagnosis
  • Humans
  • Neurofibromatosis 2/diagnosis
  • Neurofibromatoses/diagnosis
  • Skin Neoplasms
  • Biomarkers
  • Neurilemmoma

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