CP is a group of disorders that affect a person's ability to move and maintain balance and posture. Many of the common symptoms of CP are similar to other neurotransmitter disorders, such as Aromatic L-amino Acid Decarboxylase (AADC) deficiency, resulting in potential misdiagnosis. The program, PTC Pinpoint Direct™-CP Spectrum, is an innovative, genetic testing program which includes expert genetic counseling at no charge for eligible patients.
"An umbrella diagnosis of a neurotransmitter disorder, such as cerebral palsy, can be extremely frustrating, especially for patients and caregivers who spend years with unexplained and underlying symptoms," said
PTC Pinpoint Direct™-CP Spectrum will be available at no charge to patients of all ages in
The program is sponsored by
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.
Invitae Corporation is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.
About Genome Medical
Genome Medical is a digital health company that is transforming the delivery of genetic and genomics care through telehealth and digital infrastructure innovations. It operates as an independent virtual medical practice, with on-demand genetic expertise, testing recommendations and patient navigation platforms that accelerate the delivery of genomic insights as a service. To learn more, visit genomemedical.com and follow @GenomeMed.
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. The Company's strategy is to leverage its strong scientific expertise and global commercial infrastructure to maximize value for its patients and other stakeholders. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Facebook, Instagram, LinkedIn and on Twitter at @PTCBio.
- 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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