Centogene, PTC Expand Partnership to Offer AADC Deficiency Testing to More People

Centogene, PTC Expand Partnership to Offer AADC Deficiency Testing to More People
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Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker testing services — to help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency — available free of charge to people in more countries in Europe, Latin America, and the Middle East.

This expanded collaboration will also allow the companies to offer the same diagnostic services to patients currently participating in REVEAL CP, a screening study that aims to assess the prevalence of AADC deficiency among people with cerebral palsy (CP) with no known cause.

“PTC is proud to continue and expand our partnership with Centogene,” Claudio Santos, MD, senior vice president of global medical affairs at PTC Therapeutics, said in a press release. “We believe the insights we expect to gain from this genetic testing program may help physicians diagnose patients with AADC deficiency.” 

“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,” he added.

AADC deficiency is a genetic disorder caused by mutations in the DDC gene, which codes for an enzyme called AADC. Among other reactions, this enzyme is needed to convert a molecule called L-dopa into the brain chemical dopamine.

However, in people with AADC deficiency, L-dopa and its metabolite 3-O-methyldopa (3-OMD) tend to accumulate and reach abnormally high levels in the blood. For this reason, blood tests that measure the levels of 3-OMD may potentially help identify people with the disease.

This is the premise of the biomarker tests offered by Centogene and PTC Therapeutics, which will also be used to screen patients in REVEAL CP.

During this screening study, Centogene’s CentoCard will be used to collect dried blood spot samples from patients, which will then be analyzed to determine the levels of 3-OMD. Patients with abnormally high 3-OMD blood levels will then undergo additional tests to confirm the diagnosis of AADC deficiency, including tests to measure the activity of the AADC enzyme, and genetic tests to identify mutations in the DDC gene.

The goal is to generate information from AADC patients that enables faster diagnosis and the development of potential treatments for this rare and severely disabling disorder.

“We are pleased to expand our partnership with PTC to support the REVEAL CP study,” said Justin Bingham, senior vice president of business development at Centogene.

“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,” Bingham added.

The companies started collaborating last year to create a joint diagnostic program for AADC deficiency, incorporating biomarker and genetic testing.

All tests are provided to patients free of charge, and may be requested through Centogene’s CentoPortal platform, or by sending an email to [email protected]. Additional information about the REVEAL CP study may also be requested by email at [email protected].

Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
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