Centogene Enrolls 10K in ROPAD Genetics Study

Centogene Enrolls 10K in ROPAD Genetics Study

Centogene has completed enrollment of 10,000 participants in its two-year global study assessing the contribution of genetic factors in the development of Parkinson’s disease.

“We are pleased to have reached such a pivotal point in our Parkinson’s disease study,” Peter Bauer, MD, chief genomic officer at Centogene, said in a press release. “We are proud that this study has included over 10,000 participants from around the world.”

Centogene’s observational study, Rostock International Parkinson’s Disease Study (ROPAD, NCT03866603), includes more than 120 study sites worldwide and aims to characterize the role of genetic variability in Parkinson’s and understand the disease’s progression, diagnosis and treatment.

The global epidemiological study now has enrolled and genetically tested 10,000 adults diagnosed with Parkinson’s disease, including individuals who are family members of a patient with LRRK2 parkinsonism or who are at high risk of developing the disease.

Mutations in the LRRK2 gene are one of most common genetic causes of familial Parkinson’s, with more than 100 different mutations already identified. However, not everyone with LRRK2 mutations develops the disease.

ROPAD’s main goal is to identify the specific genetic mutations and genes that may be associated with the development of Parkinson’s. Specifically, the study is assessing the number of patients carrying mutations in the LRRK2 gene. The researchers also will assess the prevalence of mutations in other genes previously linked to Parkinson’s, such as GBA.

To perform the genetic analysis, Centogene is using the CentoCard, the company’s proprietary dried blood spot collection kit in combination with state-of-the-art sequencing technologies.

ROPAD’s protocol and preliminary results have been published in the journal Movement Disorders, in a study titled, “The Rostock International Parkinson’s Disease (ROPAD) Study: Protocol and Initial Findings.

The study found that ROPAD’s screening protocol is feasible for high‐throughput genetic characterization of Parkinson’s patients and has identified approximately 14% positive genetic findings among the first 1,360 participants with Parkinson’s.

Patients carrying genetic mutations linked to the development of Parkinson’s disease can have further clinical evaluation in an additional study, called Lübeck International Parkinson’s Disease Project (LIPAD, NCT04214509), conducted at the University of Lübeck. Led by professor Christine Klein, MD, the study, which is still recruiting participants, will document all signs and symptoms of the disease among this specific patient population.

Moreover, patients included in the ROPAD study who carry LRRK2 mutations are invited to participate in future clinical studies led by Denali Therapeutics, Centogene’s study partner, which is developing DNL151, an investigational small molecule LRRK2 inhibitor for treating Parkinson’s in collaboration with Biogen.

“Going forward, we hope to use these deep insights into Parkinson’s disease genetics to diagnose patients at the earliest point possible and contribute to targeted Parkinson’s treatments,” Bauer said.

Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.
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Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.
Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.
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