This poster, presented at SSIEM 2022, provides an overview of the REVEAL-CP study, which has been designed to determine the prevalence of aromatic L-amino acid decarboxylase (AADC) deficiency
This poster, presented at SSIEM 2022, provides an overview of the AADCAware registry, which has been designed to improve understanding of AADC deficiency diagnosis, disease progression and standard of care
An overview of diagnostic challenges of aromatic L-amino acid decarboxylase (AADC) deficiency, key signs and symptoms, and diagnostic tests are discussed in the PTC Therapeutics symposium at the 2022 EPNS Congress
This infographic, distributed at the 14th EPNS Congress, held in Glasgow in April 2022, provides an overview of the challenges in recognizing and diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency
View our symposium presented at ISPMD 2022, held in Barcelona, Spain, which discusses the potential role of an investigational gene therapy treatment in the management of AADC deficiency
View the PTC Therapeutics symposium at ICIEM 2021, which reviews clinical and real-life experiences of AADC deficiency and provides an overview of current and potential future management options
An overview of the etiology of AADC deficiency, the rationale behind gene therapy approaches, and latest clinical data are summarized in the PTC Therapeutics symposium at ESGCT 2021
This infographic, distributed at the PTC Therapeutics symposium at SSIEM 2021, discusses the key signs and symptoms, diagnostic tools, and management options in AADC deficiency
View the infographic distributed by PTC Therapeutics at the APS 2021 Symposium, which introduces aromatic L-amino acid decarboxylase (AADC) deficiency, outlines key diagnostic steps in clinical practice, and discusses gene therapies in development
View key takeaways from the IEC 2021 Symposium, sponsored by PTC Therapeutics, which discusses the differential diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency and how to recognize the red flag signs and symptoms in clinical practice
View key takeaways from the Europaediatrics 2021 Symposium, hosted by PTC Therapeutics, which reviews the signs and symptoms, referral pathway, and potential of gene therapy for the management of aromatic L-amino acid decarboxylase (AADC) deficiency
This infographic, distributed at ISPMD 2022, provides an overview on the rare nature of AADC deficiency
The key findings of a UK study into the feasibility of a mobile domiciliary phlebotomy service to promote clinical trial recruitment are presented in our poster from ISPMD 2022, held in Barcelona, Spain
The key findings of a post-hoc analysis of the clinical trial results for an investigational gene therapy are discussed in our poster from ISPMD 2022, held in Barcelona, Spain
This infographic, distributed at the PTC Therapeutics symposium at ICIEM 2021, discusses key signs and symptoms, diagnostic tests, best practice management, and investigational gene therapy treatments in development for AADC deficiency
View the PTC Therapeutics symposium at SSIEM 2021, which discusses the key signs and symptoms, diagnostic tools, and management options in AADC deficiency
This infographic, distributed at the PTC Therapeutics symposium at IEC 2021, highlights key red flags in the diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency and differentiation from epilepsy
An overview of the etiology of AADC deficiency and the rationale behind gene therapy approaches are summarized in an infographic distributed at the PTC Therapeutics symposium at ESGCT 2021
View the key takeaways from the APS 2021 Symposium, sponsored by PTC Therapeutics, which discusses the characteristic features, diagnosis, and innovative treatments in development for aromatic L-amino acid decarboxylase (AADC) deficiency
An overview of 3 clinical trials of an investigational gene therapy for the treatment of AADC is provided in this infographic, distributed at the PTC Therapeutics symposium at CNS 2021
The PTC Therapeutics symposium at CNS 2021 presents different clinical perspectives and experiences of an investigational gene therapy for the treatment of AADC deficiency
Change in the duration and frequency of oculogyric crises (OGC) in children with AADC deficiency following treatment with eladocagene exuparvovec, an investigational gene therapy, are presented in this poster from the 2021 CNS Annual Meeting
Changes in cognition and language scale scores in children with AADC deficiency following treatment with eladocagene exuparvovec, an investigational gene therapy, are discussed in this poster from the 2021 CNS Annual Meeting
Changes in motor scale scores in children with AADC deficiency following treatment with eladocagene exuparvovec, an investigational gene therapy, are presented in this poster from the 2021 CNS Annual Meeting
Changes in body weight and rate of respiratory infections in children with AADC deficiency following treatment with eladocagene exuparvovec, an investigational gene therapy, are presented in this poster from the 2021 CNS Annual Meeting
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Access PTC abstracts, infographics, posters and symposia, presented at international meetings in the fields of pediatric neurology, cognitive neuroscience, and neuromuscular disorders, such as the Child Neurological Society (CNS) Annual Meeting, American Society of Gene and Cell Therapy (ASGCT) General Meeting and the International Symposium on Genetic Syndromes with Movement Disorders and Epilepsy (GSMDE).