- Clinical Studies
- Global Patient Testing Programs
- Rostock International Parkinson's Disease Study (ROPAD)
Summary and Rationale
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.
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
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.
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
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 for mutations that may be relevant to PD.
The medical report that contains your genetic analysis results will be sent to your study doctor. CENTOGENE will provide you and your study doctor with genetic counseling by trained professionals. During this process information on the result, your concerns, and questions will be addressed. Your study doctor and you may contact CENTOGENE directly via genetic.counseling(at)centogene(dot)com in order to book a phone appointment free of charge.
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 69 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 obtained from the participant|
|The participant is clinically diagnosed with PD|
is a family member of a participant with LRRK2 parkinsonism
is a member of a high risk population with an early PD onset
|The participant is equal to or older than 18 years old|
Cooperation with University of Lübeck and Denali Therapeutics Inc.
CENTOGENE’s partner from University of Lübeck (Prof. Christine Klein, MD and Prof. Meike Kasten, 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.
For more information please contact:
Dr. Volha Skrahina, Project Lead
Am Strande 7
Dr. Toni Förster, Clinical Research Associate
Am Strande 7
Dr. Jordi Perez Lopez, Head of Pharmacomedical Studies
Am Strande 7
Marcello Grassi, Clinical Research Associate
Am Strande 7