Centogene will use its dried blood spot collection kit, CentoCard, to help identify Parkinson’s disease (PD) patients with a mutation on the LRRK2 gene that can be enrolled in Denali’s clinical study for the treatment of Parkinson’s.
Arndt Rolfs, CEO and founder of Centogene, told us the company works worldwide identifying rare hereditary diseases, but is especially active in regions where intra-familial marriage is prevalent. According to Rolfs, rare hereditary diseases are more frequently seen in those regions.
This process will help recruit for a global study Denali is conducting, focused on the early identification and characterization of LRRK2 in PD patients. It is believed that a mutation in the LRRK2 gene is a driver of lysosomal dysfunction. This type of dysfunction leads to the build-up of Lewy body protein aggregates and neurodegeneration seen in PD.
“What is really important for Denali, is to have untreated patients, and that is a big challenge,” said Rolfs. Identifying patients who have PD but also have the genetic mutation will provide for a better understanding of treatment.
Centogene will employ CentoCard as a means of identifying individuals with this genetic mutation. Rolf told us, “It [the CentoCard] is a very simple but extremely effective way as a logistic solution to transport the blot material all over the globe. The CentoCard is a simplified piece of paper. A drop of blood from the patient is sufficient to do the entire genetic and biomarker casting.”
Rolf explained that the card is stable for shipping since “you just put a drop of blood on the surface of the paper, you let it dry and then its stable for years and you can put it in a simple envelope.” He told us this will make identifying possible participants more efficient and cost-effective, since no blood work needs to be drawn and shipped worldwide in a vial.
Patients with this type of mutation represent between 1-5% of the PD population. Therefore, screening involves testing a large number of individuals to find one person with an LRRK2 positive mutation. Centogene has developed mathematical modulations that have shown that per the collaboration the, time spent identifying patients will decrease from 3-5 years to 12-18 months.