- 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 role of genetics in Parkinson's disease (PD). The major goal of the study is to characterize the genetics of PD to establish a better understanding of the disease progression, diagnosis, and treatment. Throughout this study, 10,000 participants from around the world, made up of PD patients and individuals at high risk of developing PD, will be tested over a period of two years – with the overall aim of identifying 1,500 LRRK2-positive participants.
ROPAD Study Rational and Screening Strategy
PD can be caused by several factors, including environmental factors, genetics, and aging. In recent years, a growing number of PD related genes have been described – including LRRK2 and GBA. Thus, the identification of new genes and mutations associated with PD will not only improve our understanding of the underlying molecular mechanisms, but may also lead to the development of new drugs and treatments.
- Step 1: The whole GBA gene as well as LRRK2 gene hotspots is analyzed.
- Step 2: If the first step produces a negative result, a comprehensive combined analysis of 68 PD associated genes is applied as a second step. This gene panel covers the known PD-causing genes, along with an additional set of genes, which have been recommended by leading genetic and neurology specialists (Prof. Rolfs, Prof. Bauer and Prof. Klein) or are suspected to cause disorders that may mimic PD.
- Step 3: If the first and second steps produce negative results and strong evidence of a genetic cause (i.e., extensive and well-documented family history of PD or early onset, with the patient presenting with PD at the age of 55 or younger) is present, whole genome sequencing will be carried out. This third step may result in the identification of novel genetic causes of PD.
In the case of a LRRK2 mutation, the participant may be offered participation in future clinical studies.
Information About the Study
Design: International, epidemiological, observational, non-interventional study
Study population: PD patients and high-risk populations
Number of participants: 10,000 participants
First participant in: April 2019
Last participant in: February 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
Primary – Identification of 1,500 LRRK2 positive patients and of ~500 patients with monogenic PD (other than LRRK2)
Secondary – The biomarker establishment in LRRK2-positive cohort
Find out how you can participate: ClinicalTrials.gov
Study access on CentoPortal® for participating physicians
ROPAD is a global study currently being conducted in the United States, Brazil, Europe, and Israel. Participating countries and the geographic distribution facilitate 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
- Likelihood of developing 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 tremors, muscle rigidity, postural instability, and gait abnormalities
Study Design and Information for Participants:
Who can participate in the ROPAD Study?
The participation in the study is available for individuals older than 18 years of age and who fulfill the following criteria:
1. Informed consent is provided.
2. Clinically diagnosed with PD
3.First- and second-degree family memeber of a Positive LRRK2 participant enrolled in the ROPAD Study
4. At high risk due to ethnicity/family history.
What should I expect from participating in the ROPAD Study?
As a participant in the ROPAD Study, you will be asked to provide a signed consent form, a small blood sample, which will be applied to a CentoCard®, and a short clinical history, as well as to perform a neurological exam.
The CentoCard® will be sent and analyzed in CENTOGENE’s laboratory for mutations that may be relevant to PD.
If you have agreed to being informed about the genetic testing results, your doctor will share the medical report with you.
After receiving your genetic test results, your doctor can provide further consultation or you/your doctor can request a free genetic counseling via this email: genetic.counseling(at)centogene(dot)com. During counseling, you will have the opportunity to gain a deeper understanding of your medical results and the impact of the findings on your family.
Cooperation with the University of Lübeck and Denali Therapeutics Inc.
CENTOGENE’s partners from the University of Lübeck (Prof. Christine Klein, MD and Prof. Meike Kasten, MD) will contribute to further clinical and genetic assessments via 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), who are recruited from the families of unaffected mutation carrier.
For the idiopathic PD patients, the University of Lübeck aims to collect 1,500 PD patients without a mutation in LRRK2, who are recruited from those who have tested negative.
CENTOGENE's pharmaceutical partner DENALI Therapeutics Inc. (California, U.S.) develops investigational therapies for the treatment of neurodegenerative diseases, as well as others. Any participant testing positive for LRRK2 mutations that meets eligibility criteria may be offered participation in one of their future clinical studies.