Rostock International Parkinson's Disease Study (ROPAD)

 

ROPAD is an international multicenter epidemiological observational study with the goal to investigate the genetic background of Parkinson patients.

It is closely connected to a scientific follow-up study with the University of Lübeck (LIPAD).

  1. Rostock International Parkinson's Disease Study (ROPAD)

Summary and Rationale

Overview

The Rostock International Parkinson’s Disease Study (ROPAD) is a global observational study focusing on the genetics in Parkinson’s disease (PD). The study aims at investigating the genetic background of PD patients for a better understanding of disease development, diagnosis, and treatment. The study will involve up to 10,000 participants over two years, with the overall aim of identifying 1,500 LRRK2-positive patients.


Study Rationale

PD can be caused by genetic mutations, but it is thought to result more frequently from an interaction between genetic and environmental factors. In recent years, a growing number of PD related genes have been described - including LRRK2 and GBA. Thus, the identification of new genes and new mutations associated with PD will not only improve our understanding of the underlying molecular mechanisms, but may lead to the development of new drugs and treatments.

  • Study participants will have access to genetic counseling about their genetic status and its relation to PD
  • In case of LRRK2 mutation, the participant may be offered participation in future clinical studies with our partner (Denali Therapeutics Inc / California, US), who is developing investigational therapies for the treatment of neurodegenerative and other human diseases.

All patients participating in ROPAD will be making an important contribution to the global understanding of PD and to the potential development of treatment.

Information about the Study

Design: International epidemiological observational non-interventional study

Study population: PD patients and LRRK2 carriers with an early PD onset

Number of participants: 10,000 participants

First participant in: April 2019

Last participant in: September 2021

Inclusion period: 24 months

Objectives: Epidemiological analysis of the prevalence of LRRK2-positive patients and of patients with PD-related gene alterations (other than LRRK2 gene) in a cohort of PD patients

Aim: Identification of 1,500 LRRK2 positive patients and of ~500 patients with monogenic PD (other than LRRK2)

The biomarker establishment in LRRK2-positive cohort

ClinicalTrials.gov

Geographic Scope

ROPAD is a global study with plans to enroll sties from a number of countries - enabling a study cohort with a broad genetic and ethnic background that mirrors the global population.

Overview of countries that will be recruited to participate in ROPAD globally. The dots mark the headquarter of Centogene AG, Rostock, and the University of Lübeck. (© OpenStreetMap contributors)

Parkinson’s Disease Facts

  • One of the most common neurodegenerative disorders worldwide: Approximately 1% of individuals over 60 years are affected
  • PD increases with age and is more frequent in males
  • Both genetic and environmental factors may contribute to PD
  • Characterized by pathological toxic protein deposits in neurons leading to a deficiency of neurotransmitters such as dopamine
  • Clinical symptoms include tremor, muscle rigidity, postural instability, and gait abnormalities

Study Design

Participants fulfilling the inclusion criteria will be enrolled into the Study after providing informed consent. All participants will have a single research blood sample drawn, which will be equivalent to 30 drops of blood (around 1ml). This will be applied to a CentoCard®. The CentoCard® will be sent to CENTOGENE and analysed in CENTOGENE’s laboratory.

The sample will be genetically tested for eight LRRK2 hotspot mutations and the whole GBA gene will be sequenced via Next Generation Sequencing (NGS). If LRRK2 hotspots are negative but participants have an early onset or a positive family history, they will be tested more thoroughly for 68 PD associated/causing genes using a NGS-based gene panel. If the panel is negative for a PD associated variant and the individual has an early PD onset or a positive PD family history, whole genome sequencing (WGS) will be performed upon the agreement of the participant.

Inclusion criteria for participation in ROPAD
Informed consent is provided
The patient is clinically diagnosed with PD
or
is a family member of a patient with LRRK2 parkinsonism
or
is a member of a high risk population
The participant is older than 18 years old

Cooperation with University of Lübeck and Denali Therapeutics Inc.

Workflow of genetic testing according to the study design.

CENTOGENE’s partner from University of Lübeck (Prof. Christine Klein, MD) will contribute to further clinical and genetic assessments with the program “LRRK2 International Parkinson’s Disease Project (LIPAD)”. All ROPAD-enrolled participants with any genetic mutation can be enrolled in the LIPAD study. Additionally, the University of Lübeck aims to collect 500 healthy controls (no LRRK2 mutation and no PD manifestation), recruited from the family of the unaffected mutation carrier. For the idiopathic PD patients the University of Lübeck aims to collect 1,500 PD patients without mutation in LRRK2, recruited from among those who tested negative.

Any participant testing positive for LRRK2 mutations that meet eligibility criteria, may be offered participation in the future clinical studies with our partner (Denali Therapeutics Inc / California, US), who is developing investigational therapies for the treatment of neurodegenerative and other human diseases.

Contact

For more information please contact:

Dr. Volha Skrahina, Project Lead
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: volha.skrahina(at)centogene(dot)com

Dr. Toni Förster, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: toni.foerster(at)centogene(dot)com

Dr. Sabine Pisiewicz, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Sabine.Pisiewicz(at)centogene(dot)com

Dr. Chun-Wei Lee, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Chun-Wei.Lee(at)centogene(dot)com

Dr. Jordi Perez Lopez, Head of Pharmacomedical Studies
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Jordi.PerezLopez(at)centogene(dot)com

Marcello Grassi, Clinical Research Associate
CENTOGENE AG
Am Strande 7
18055 Rostock
Germany
Email: Marcello.Grassi(at)centogene(dot)com


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