Neurofibromatosis Type 1 Netherlands Network Registry and Biobank (NF1-NNRB)

Neurofibromatosis type 1 (NF1) is a genetic tumour predisposition syndrome characterised by considerable clinical heterogeneity and an unpredictable disease course, complicating management and treatment of individuals with NF1. This nationwide longitudinal natural history study (LNHS) and biobank were established within the NF1 Expertise network in the Netherlands to support research into clinical predictors and molecular biomarkers. Data collection initially focuses on plexiform neurofibromas and malignant peripheral nerve sheath tumours with additional modules to be incorporated. By integrating clinical, genetic, imaging, and biospecimen-related data, this project aims to improve risk stratification, enable earlier detection of complications, and facilitate more personalised care for individuals with NF1.

This metadata collection describes the variables used within the LNHS and biobank that are based on the EU-PEARL LNHS protocol and the ERN-GENTURIS registry. Collection of genetic data is aligned with the NEtherlandS genetic TumOr Risk registry (NESTOR). Included are a README file with explaining the metadata; the codebook with variable names, definitions and labels, permitted values and the data collection structure; and an example case report form. It provides a standardised framework for consistent data capture, sharing, and reuse across participating centres.

1. https://publications.europa.eu/resource/authority/data-theme/HEAL

1. http://id.loc.gov/vocabulary/iso639-1/en

1. http://data.europa.eu/eli/reg/2016/679/oj

1. 1.1