PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the launch of a no-cost testing program for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic condition. Children with AADC deficiency fail to thrive and commonly don’t reach developmental milestones that include being able to hold up their head, sit unassisted, and stand.1 These patients also have muscular hypotonia, severe seizure-like episodes that include oculogyric crises, and the need for intensive life-long care.1 To raise awareness and identify misdiagnosed AADC deficiency patients, PTC has launched a no-cost testing program to genetically distinguish these patients from those with other disorders.
“We know that there are a large number of patients with AADC deficiency that have yet to be properly diagnosed,” said Stuart W. Peltz, Ph.D., Chief Executive Officer of PTC Therapeutics. “For many AADC deficiency patients and their families, the journey to diagnosis is extremely challenging. Many patients spend years without a diagnosis or are misdiagnosed with other neurological conditions, such as cerebral palsy. We are very proud to provide diagnostic testing – at no cost to the AADC deficiency community – to support accurate and earlier diagnosis for patients.”
AADC deficiency is caused by pathogenic mutations in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin.1 In the brain, dopamine and serotonin are important nerve cell signalling molecules.
“Identifying the underlying genetic mutations of AADC deficiency is critical to understand the nature and prognosis of an individual patient’s disease, and to ensure the best possible treatment,” said Dr. Arndt Rolfs, CEO CENTOGENE. “The analysis of 3-O-Methyldopa (3OMD) based on an innovative dried blood spot test at CENTOGENE is extremely important in support of patients suffering from symptoms related to AADC deficiency, and underscores our passion for helping to reduce the diagnostic odyssey and bring hope to patients and their families.”