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 language | English |
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Pages (from-to) | 40-50 |
Number of pages | 11 |
Journal | Clinical Trials |
Volume | 21 |
Issue number | 1 |
Early online date | 31 Oct 2023 |
DOIs | |
Publication status | Published - 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