Biomarker – being per definition quantifiable readouts like metabolites or small molecules in the body's fluids – allow the easy identification of patients, the quantification of the outcome, correlates with the progress or improvement in the individual patient. Without an identified biomarker, the ability to diagnose and ultimately treat a patient in a timely manner is diminished. Delayed diagnoses and limited knowledge of available treatments can lead to incorrect patient management, further disease progression and/or invasive or detrimental treatments. In addition, the lack of an identified biomarker can create hurdles in obtaining drug approval.
Based on the strengths of our high-sensitivity Tandem-Mass-Spectrometry (MS/MS) platform, we are well-placed to address the needs of the patients and pharmaceutical industry for the access to high-sensitive biomarkers.
The following examples capture solutions that we have provided to our patients and pharmaceutical partners covering epidemiological study, biomarker development and pharmaceutical diagnostics.
CENTOGENE´s proprietary biomarker in Gaucher disease, Lyso-Gb1, demonstrates the highest sensitivity and specificity for the diagnosis and monitoring of Gaucher disease, allowing clinicians and our pharmaceutical partners to gain a better understanding of the disease pathophysiology.
Niemann-Pick Type C Disease
Through our studies, we have been able to demonstrate that the majority of adult patients suffering from Niemann-Pick type C disease also exhibit psychiatric symptoms. In addition, our data suggests our biomarker, Lyso-SM509, is a 100% sensitive biomarker for Niemann-Pick type C disease. This biomarker has the potential to provide an earlier and more simplified diagnosis of patients with Niemann-Pick type C disease.
We published research demonstrating that Fabry disease is the most frequent monogenic etiology in stroke patients under 55 years of age. The proper interpretation of newly identified variants within the causative gene (GLA) is based on the accurate measurement of lyso-Gb3, the actually best biomarker in that disease, as well as the monitoring of a once genetically and biochemically confirmed Fabry patient.
Our collaborations with pharmaceutical partners provide a variety of services, including early patient identification, epidemiological and patient population sizing insights, biomarker discovery and patient monitoring and follow-up. Our information platforms, deep access to rare disease patients and ability to develop proprietary technologies and biomarkers allows us to provide services to our pharmaceutical partners in all phases of the drug development.
As of August 31, 2019, we had over 30 biomarkers under development and had commercialized ten biomarkers covering eight rare diseases, including Aromatic I-amino acid decarboxylase ("AADC") deficiency, Cystic Fibrosis, Fabry disease, Faber disease, Gaucher disease, Hereditary Angioedema ("HAE"), Niemann-Pick Type A/B, and Niemann-Pick Type C. Biomarkers further support the diagnosis and monitoring of patients, which helps physicians to optimize treatment decisions in a timely and effective manner.