"We are excited to see the transformational effects in AADC deficiency patients in this long-term study as patients with severe AADC deficiency never achieve the ability to sit, walk or talk," said
New analysis evaluated outcomes of 26 patients with AADC deficiency across three separate clinical trials,2 making it the most comprehensive analysis of patients treated with PTC-AADC to date. Specifically, these results showed that 12 months post-treatment with PTC-AADC, patients' mean body weight had increased from 12.0 kg to 15.2 kg, and the frequency of oculogyric crises (involuntary upward eye movement) was reduced.2 Dyskinesia (involuntary movements) was the most frequently recorded adverse event, however most events were mild or moderate and all cases resolved by 10 months post-treatment.2
"In addition to failing to reach key developmental milestones, such as walking and talking, children with AADC deficiency can experience severe symptoms that affect their everyday lives. These symptoms can include episodes of oculogyric crises, which can last for minutes or hours and involve sustained upward movement of the eyes, involuntary movements of the neck, tongue protrusions and jaw spasms, which can be very distressing for patients and their families," said
A separate analysis of a long-term study demonstrated the sustained efficacy of PTC-AADC up to five years.1 These are the longest data available for any investigational treatment for AADC deficiency. These results showed clinically meaningful and sustained improvements in motor, cognitive and language milestones up to five years post-treatment with PTC-AADC.1
An additional abstract building on the existing understanding of AADC deficiency was also presented, giving a disease state overview that highlights the potential importance of a gene therapy to treat this condition.3
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.4
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.4 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 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 on www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.
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- Chien et al. AGIL-AADC gene therapy results in sustained improvements in motor and developmental milestones through 5 years in children with AADC deficiency. Poster presented at the 48th Annual Meeting of the
Child Neurology Society, Oct 23-26, 2019 Charlotte, NC, USA. Poster P207.
- Hwu et al. Safety and Improved Efficacy Outcomes in Children With AADC Deficiency Treated with AGIL-AADC Gene Therapy: Results From Three Clinical Trials.. Poster presented at the 48th Annual Meeting of the
Child Neurology Society, Oct 23-26, 2019 Charlotte, NC, USA. Poster P231.
- Himmelreich et al. Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency.. Poster presented at the 48th Annual Meeting of the
Child Neurology Society, Oct 23-26, 2019 Charlotte, NC, USA, Poster P207
- 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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As with any pharmaceutical under development, there are significant risks in the development, regulatory approval and commercialization of new products. There are no guarantees that any product will receive or maintain regulatory approval in any territory, or prove to be commercially successful, including PTC-AADC.
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