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. 2021 Apr;36(4):1005-1010.
doi: 10.1002/mds.28416. Epub 2020 Dec 14.

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

Volha Skrahina  1 , Hanaa Gaber  1 , Eva-Juliane Vollstedt  2 , Toni M Förster  1 , Tatiana Usnich  2 , Filipa Curado  1 , Norbert Brüggemann  2 , Jefri Paul  1 , Xenia Bogdanovic  1 , Selen Zülbahar  1 , Maria Olmedillas  1 , Snezana Skobalj  1 , Najim Ameziane  1 , Peter Bauer  1 , Ilona Csoti  3 , Natalia Koleva-Alazeh  3 , Ulrike Grittner  1 , Ana Westenberger  1 , Meike Kasten  2 , Christian Beetz  1 , Christine Klein  2 , Arndt Rolfs  1 ; ROPAD Study Group
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The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

Volha Skrahina et al. Mov Disord. 2021 Apr.

Abstract

Background: Genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize ~10,000 participants.

Methods: Recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew. DNA analysis involved up to 3 successive steps: (1) variant (LRRK2) and gene (GBA) screening, (2) panel sequencing of 68 PD-linked genes, and (3) genome sequencing.

Results: Initial data based on the first 1360 participants indicated that the ROPAD enrollment strategy revealed a genetic diagnostic yield of ~14% among a PD cohort from tertiary referral centers.

Conclusions: The ROPAD screening protocol is feasible for high-throughput genetic characterization of PD participants and subsequent prioritization for gene-focused research efforts and clinical trials. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keywords: GBA; LRRK2; Parkinson's disease; genetic factors; observational clinical study.

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Figures

FIG. 1
FIG. 1
Workflow for genetic analysis of participants in cohort A.
See this image and copyright information in PMC

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