Project Details
Projekt
Central Clinical Infrastructure (Z1-Project)
Applicants
Dr. Nina van Beek; Professor Dr. Christian David Sadik; Professor Dr. Enno Schmidt; Professor Dr. Detlef Zillikens (†)
Subject Area
Dermatology
Term
from 2015 to 2023
Project identifier
Deutsche Forschungsgemeinschaft (DFG) - Project number 269234613
Translational research requires continuous access to patients and matched controls to obtain specimens and (clinical) phenotypes. The access to patients suffering from rare diseases is naturally limited. To overcome this obstacle for its translational/clinical research, the CRU established the core unit Central clinical Infrastructure (Z1-Project). The Z1-Project systematically collects specimens of PD and matched controls. Furthermore, it most exhaustively phenotypes PD patients. Both the sample collection and the phenotyping is conducted according to SOPs, developed and continuously refined by the Z1- Project during the 1st FP. Also, wherever possible, the Z1-Project longitudinally follows-up PD patients, which includes repeated sampling and phenotyping of individual patients. The phenotyping includes a detailed clinical examination, history, and profiling laboratory parameters. All data are compiled in the CRU database, which was installed by the Z1-Project during the 1st FP, and is continuously analyzed by the Z2-Project - Biostatistics and Systems Medicine. These compiled phenomics of PD patients are key to interpret the different results, derived from the patients’ specimens, with respect to their precise clinical context and to elucidate the pathogenesis of PDs by dissecting the typical interindividual heterogeneity in the clinical phenotype of PD patients. In the 2nd FP, the Z1-Project will continue to provide all specimens required for the CRU projects and to further systematically phenotype PD patients and increase the number of PD patient profiles compiled in the CRU database. A new central aspect of the phenotyping will be an in-depth neurological profiling of bullous pemphigoid (BP) patients. This neurological profiling will be added to the phenotyping because in recent years, evidence has accumulated that diverse disorders of the CNS precede BP and may even initiate its emergence. To address this, BP patients will be clinically and neuropsychologically examined and their CNS will be imaged using MRI-based technologies mapping its morphology and functionality. Hereby, the CRU will be able to determine whether BP patients typically suffer from at least subclinical neurological deficits and whether these deficits have common morphological or functional features. The Z1-Project will also organize the completion of a multi-omics profile of a subcohort of our BP patients, which will include peripheral transcriptomics, metabolomics, and proteomics (specifically cytokine and chemokine levels) through the course of 6 months starting with an acute flare of disease. These Omics will be part of a trans-ome-wide association study (trans- OWAS) performed in the Z2-Project to establish cause-effect relationships between the activity of individual pathways and disease, thus revealing the pathogenic significance of specific molecular pathways. Furthermore, these multi-omics will enable the development of multivariate biomarkers in the Z2-Project.
DFG Programme
Clinical Research Units
