In this subproject “Patient Registry and Biobanking”, the groundwork will be laid for future early phase II disease-modifying trials in patients with rare Mendelian forms of PD, by

1. ascertaining the world-wide largest cohort of patients with rare Mendelian forms of PD, as well as their pre-symptomatic mutation-carrying relatives
2. establishing a biobank with biological fluids (plasma, serum, CSF) and cells (lymphocytes, fibroblasts) from these patients for transcriptomic, proteomic and biochemical studies
3. conducting longitudinal investigations of changes in these individuals on the transcriptomic and proteomic level, as well as by focused analysis of candidate proteins, in order to define suitable biomarkers as read-outs for rationally designed drug trials.

 

Workpackages

 

Workpackage No	Work package title	Lead Participant No	Work Package Leader
3.1	MEFOPA-Registry	University of Tuebingen	Thomas Gasser
3.2	MEFOPA-biobank	University of Tuebingen	Thomas Gasser
3.3	Transcpritional changes in ex vivo cells from patients with rare Mendelian forms of PD	University of Tuebingen	Olaf Riess
3.4	Proteomic changes in body fluids and  ex vivo cells from patients with rare Mendelian forms of PD	Vrije Universiteit: Vereniging voor christelijk hoger onderwijs, wetenschappelijk onderzoek en patientenzorg	Guus Smit
3.5	Determination of a-synuclein species in biological fluids	United Arab Emirates University, Faculty of Medicine and Health Science	Omar El-Agnaf
MA	Management activities	University of Tuebingen	Holm Graessner