Benzinga | Nov 25, 2020 06:33AM EST

CENTOGENE Expands Partnership With PTC Therapeutics To 'Generate New Insights for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency'

CAMBRIDGE, Mass. and ROSTOCK, Germany and HEIDELBERG, Germany and BERLIN, Nov. 25, 2020 (GLOBE NEWSWIRE) -- Centogene N.V. (NASDAQ:CNTG), a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies, announced today that it has expanded its partnership with PTC Therapeutics, Inc. The companies will work together in several new regions including many countries in Europe, the Middle East, and Latin America to provide genetic testing and 3-O-Methyldopa (3-OMD) biomarker analytics to help identify patients with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. AADC deficiency is a life-shortening, ultra-rare genetic disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life. In addition, CENTOGENE will now provide this testing and biomarker analytics for patients involved in the REVEAL CP study, a screening study designed to determine the prevalence of AADC deficiency in patients with cerebral palsy (CP) of unknown cause.



The REVEAL CP study will screen patients for AADC deficiency with CentoCard(r) -- CENTOGENE's CE-labeled dried blood spot collection kit -- by evaluating blood samples for above normal levels of 3-OMD. Patients with elevated 3-OMD will be further tested for decreased levels of AADC enzyme activity and the presence of variants in the DOPA decarboxylase (DDC) gene. Through the generation of insights from the study, CENTOGENE and PTC aim to shorten the diagnosis time for patients living with AADC deficiency and ultimately accelerate the discovery of potential treatment options for patients living with this rare genetic disorder.

Justin Bingham, CENTOGENE's Senior Vice President of Business Development, stated, "We are pleased to expand our partnership with PTC to support the REVEAL CP study, a global screening study designed to determine the prevalence of AADC deficiency in patients with cerebral palsy of an unknown cause. Together, we will offer genetic testing and 3-OMD biomarker analytics and widen the geographical scope of the no cost testing program, all of which are critical steps as we work together to bring hope to patients living with this rare genetic disorder."

"PTC is proud to continue and expand our partnership with CENTOGENE. We believe the insights we expect to gain from this genetic testing program may help physicians diagnose patients with AADC deficiency," said Claudio Santos, Senior Vice President of Global Medical Affairs at PTC Therapeutics. "The AADC deficiency diagnostic testing program and REVEAL CP study are critical ways in which we can help to shorten the diagnostic journey that so many patients and families face. This is central to our mission and daily commitment at PTC to help patients with rare disorders."

CENTOGENE and PTC began collaborating in 2019 to create a diagnostic program for AADC deficiency, a rare inherited disorder that affects the way signals are passed between certain cells in the nervous system. AADC deficiency causes severe developmental disabilities, the inability to develop any motor strength and control, frequent hospitalizations, and the need for life-long care. At this time, there is no cure for AADC deficiency.

The testing is provided at no cost to patients and can be accessed via CENTOGENE's user-friendly CentoPortal(r) platform (www.centoportal.com), or alternatively by sending an email to AADCdtesting@ptcbio.com. To learn more about the REVEAL CP study email medinfo@ptcbio.com.