Centogene And PTC Therapeutics Collaborate To Deliver A Diagnostic Program For AADC Deficiency

Pixabay License | Source: Gerd Altmann , no changes made.
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CENTOGENE N.V., 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, has signed an agreement with PTC Therapeutics, Inc. (PTC) for a global diagnostic program for aromatic L-amino acid decarboxylase (AADC) deficiency.

Founded in 2006, headquartered in Rostock, Germany, CENTOGENE’s goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using knowledge of the global rare disease market, including epidemiological and clinical data and innovative biomarkers. CENTOGENE has developed a global proprietary rare disease platform based on a real-world data repository with over 2.0 billion weighted data points from over 450,000 patients representing 115 different countries as of August 31, 2019, or an average of over 500 data points per patient.

Founded in 1998, headquartered in South Plainfield, New Jersey, PTC Therapeutics is a science-led, patient-centered biopharmaceutical company focused on discovering, developing and commercializing medicine for patients with rare disease.

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AADC deficiency is a rare inherited disorder that affects the way signals are passed between certain cells in the nervous system. It causes severe developmental disabilities, the inability to develop any motor strength and control, frequent hospitalizations, and the need for life-long care.

The testing program for AADC deficiency will provide physicians with much needed analysis of 3-O-Methyldopa (3OMD), a powerful metabolic biomarker measured by mass spectrometry. When indicated by abnormal 3OMD levels, next generation sequencing (NGS) of the dopa decarboxylase (DDC) gene and variant analysis, providing 100% coverage, will be conducted. Eventually, deletion/duplication analysis will then be run if no mutation is identified via NGS.

Analysis will be performed using CentoCard® – CENTOGENE’s CE-marked dried blood spot collection kit – that will be directly shipped to physicians. CENTOGENE also is in the process of validating DDC enzyme activity from dried blood spot and in doing so aims to offer 3OMD, NGS and DDC enzyme activity testing using a single CentoCard®. This represents a complete set of assays facilitating the diagnosis of AADC.

“We are pleased to support PTC Therapeutics for this important diagnostic program helping patients suffering from symptoms related to AADC deficiency. We aim to provide physicians with a consensus diagnosis that includes a biomarker, and genetic validation from a single source.” … “The analysis of 3-O-Methyldopa (3OMD) based on our dried blood spot test at CENTOGENE underscores our passion for helping to reduce the diagnostic odyssey and for bringing hope to patients and their families.” – Dr. Arndt Rolfs, CEO, CENTOGENE


  1. https://www.globenewswire.com/news-release/2019/11/18/1948673/0/en/CENTOGENE-Signs-New-Collaboration-with-PTC-Therapeutics-for-Global-Diagnostic-Testing-Program.html
  2. https://www.linkedin.com/company/ptc-therapeutics/about/