Masdiag Partners with PTC Therapeutics for AADC Deficiency Screening

A New Partnership for Rare Disease Diagnostics

Masdiag Laboratory is thrilled to announce a new partnership with PTC Therapeutics, Inc. Together, we are developing and implementing a cutting-edge tool for detecting AADC deficiency — a rare neurological disorder that is commonly undiagnosed and misdiagnosed.

The Innovation

Leveraging our expertise at Masdiag, we have developed an innovative method based on dried blood spot testing to determine the concentration of 3-O-methyl-DOPA (3-OMD), a specific biomarker for AADC deficiency.

This collaboration enables doctors in Poland, and potentially across Europe, to access state-of-the-art diagnostic tools for this condition. AADC deficiency is often misdiagnosed as cerebral palsy, epilepsy, or developmental delay, with an average diagnostic delay exceeding three years.

Why Early Detection Matters

With the approval of Upstaza (eladocagene exuparvovec), the first gene therapy for AADC deficiency, early identification has become more critical than ever. The partnership between Masdiag and PTC Therapeutics represents a significant step towards enhancing the availability of rare disease diagnostics in Poland and beyond.