"Genetic testing programs in rare disorders are crucial for more rapid and accurate diagnosis so that patients can be identified early and receive treatment as young as possible," said
PTC PINPOINT is being conducted in partnership with
PTC PINPOINT uses the
Healthcare professionals can order the test from PTC PINPOINT if their patients are showing symptoms of neurotransmitter diseases. Additional details, terms and conditions of the program can be found at www.invitae.com/ptc-pinpoint.
Individuals tested through PTC PINPOINT are eligible for post-test genetic counselling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counselling service, and is made available by
"Genetic testing can expedite making an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research into neurotransmitter disorders. Early testing is essential, as many neurodegenerative diseases have similar clinical presentations but will likely differ in which treatment is appropriate once they become available. Furthermore, there is ample experience with other rare neurodegenerative disorders that outcomes will most likely be better the sooner treatment is started," said
About aromatic L-amino acid decarboxylase (AADC) deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic condition caused by a mutation 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.2
AADC deficiency results in delays or failure to reach developmental milestones such as head control, sitting, standing, walking, or talking, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye movement (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.2 Given this neurologically devastating illness, patients with severe AADC deficiency have a high risk of death during childhood. There are currently no approved therapies that address the underlying cause.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.
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- Jaeken et al. Disorders of Neurotransmission. Inborn Metabolic Diseases. 2006.
- Wassenberg et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017; 12:12.
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