This symposium, from the 15th SSIEM annual congress in 2022, held in Freiburg, Germany, gives real-world insights into the management of aromatic L-amino acid decarboxylase (AADC) deficiency from a caregiver and clinician perspective
This symposium, presented at ICNC 2022, provides an overview of the real-world diagnosis and management experience of aromatic L-amino acid decarboxylase (AADC) deficiency
This infographic, distributed at the PTC Therapeutics symposium at ICNC 2022, provides an overview of the real-world diagnosis and management experience of aromatic L-amino acid decarboxylase (AADC) deficiency
This poster, presented at NEALS 2022, shows the results of a phase 1 study assessing the pharmacokinetics and safety of utreloxastat in amyotrophic lateral sclerosis (ALS)
This poster, presented at NEALS 2022, shows the preclinical results of utreloxastat in amyotrophic lateral sclerosis (ALS) and neurodegenerative diseases
This poster, presented at WMS 2022, focuses on the safety and efficacy results of Study 041, a phase 3 placebo-controlled trial of ataluren for patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
This poster, presented at WMS 2022, shows findings from a registry study investigating the effects of a mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) on upper limb function
The best practice management and continuity of care in patients with Duchenne muscular dystrophy (DMD) was the focus of this symposium, presented at WMS 2022
This infographic, distributed during PTC Therapeutics symposium at ESGCT 2022, provides an overview of gene therapy as a strategy for the management of AADC deficiency
This symposium, presented at CNS 2022, provides an overview of aromatic L-amino acid decarboxylase (AADC) deficiency management, with a focus on an investigational intraputaminal gene replacement therapy
This symposium from the 14th EEC Congress, held in Geneva, Switzerland 2022, provides real-world insights into the caregiver and clinician perspective of the diagnosis and management 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
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 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
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
View our infographic, distributed at the PTC Therapeutics symposium at the 2022 SIMD Annual Meeting, which introduces aromatic L-amino acid decarboxylase (AADC) deficiency, describes the key signs and symptoms of the condition, and outlines the tests required for diagnosis
This satellite symposium, presented at the 2022 SIMD Annual Meeting in Orlando, Florida, focuses on the diagnosis and management of aromatic L-amino acid decarboxylase (AADC) deficiency
This poster, presented at the 2022 SIMD annual meeting, introduces a locus-specific database for the variants in the DDC gene that lead to the symptoms of AADC deficiency
This poster, presented at the 2022 14th EPNS Congress in Glasgow, discusses the functional outcomes of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving a mutation-specific DMD therapy in real-world practice versus a clinical trial setting
View an analysis of motor function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving ataluren in real-world practice versus a clinical trial setting in our poster presented at EPNS 2022
This poster, presented at ISPOR 2022, highlights how the severity of aromatic L-amino acid decarboxylase (AADC) deficiency symptoms can impact on the quality of life of both patients and caregivers
Presented at the 2022 AAN Annual Meeting in Seattle, USA, this poster shows results from a study investigating disease progression following treatment with different corticosteroids for Duchenne muscular dystrophy (DMD)
This poster, presented at the 2022 AAN Annual Meeting in Seattle, USA, presents the results of a comparison of corticosteroid treatments in non-ambulatory patients with DMD
View the key takeaways from our MDA 2022 Virtual Industry Forum, which summarizes the role of corticosteroids in the treatment of patients with Duchenne muscular dystrophy (DMD)
Watch our hybrid Industry Forum at MDA 2022, which discusses the latest clinical findings on the role of corticosteroid treatment in the management of Duchenne muscular dystrophy (DMD)
This poster, from the 2022 MDA Conference in Nashville, Tennessee, USA, presents the ambulatory outcomes observed following treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) in the STRIDE Registry and Study 020, a Phase 3 clinical trial
This poster, presented at the 2022 MDA Conference in Nashville, Tennessee, USA, reports the results of a comparison of corticosteroid treatments on clinical outcomes in non-ambulatory DMD patients
This poster from the 2022 MDA Conference in Nashville, Tennessee, USA, presents results from a study comparing clinical outcomes in patients with Duchenne muscular dystrophy (DMD) by corticosteroid type within distinct patient subgroups
This poster, presented at the 2022 MDA Conference in Nashville, Tennessee, USA, shows the results of a study comparing 2 corticosteroids in delaying disease progression milestones in patients with DMD
This poster, presented at the 2022 MDA Conference in Nashville, Tennessee, USA, shows results from a propensity score-matched registry analysis, using data from the STRIDE Registry and CINRG Natural History Study, to determine the effect of a mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) on pulmonary function
This poster, from the 2022 MDA Conference in Nashville, Tennessee, USA, compares the age at loss of ambulation in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) enrolled in the STRIDE Registry and CINRG Natural History Study
This poster, presented at the 2022 MDA Conference in Nashville, Tennessee, USA, provides safety data from a registry analysis of boys with nonsense-mutation Duchenne muscular dystrophy (nmDMD)
This poster, presented at the virtual 2021 AMCP Annual Meeting, shows findings from a study comparing the effects of treatment on time to LoA and pulmonary function decline in nmDMD
This poster, presented at the 2021 virtual AMCP Annual Meeting, describes a literature review to establish core prognostic indicators for DMD, to help inform propensity score-matching models in studies
This poster, presented at the 2021 virtual AMCP Annual Meeting, shows the key findings of an investigation into the symptoms and impact of nmDMD at different stages of ambulation
This poster, shown at the 2021 virtual AMCP Annual Meeting, presents results of a qualitative interview study investigating the impact on health-related quality of life (HRQoL) of nmDMD, and patients’ and caregivers’ experience of treatment
This poster, presented at the virtual 2021 MDA Conference, shows findings from a study comparing the effects of treatment on time to LoA and pulmonary function decline in nmDMD
This poster, presented at the 2021 virtual MDA Conference, shows the methodology and importance of propensity score-matching in clinical trials where random assignment to treatment is not possible
This poster, displayed at the 2021 virtual MDA Conference, shows findings from an investigation into the real-world reasons for switching between corticosteroids for the treatment of dystrophinopathies
This poster, presented at the ICNMD virtual meeting in 2021, shows the results from a study evaluating efficacy of a mutation-specific DMD therapy
This poster, presented at the ICNMD virtual meeting in 2021, shows findings from a registry study investigating the effects of a mutation-specific Duchenne muscular dystrophy (DMD) therapy on pulmonary function in patients with DMD
This poster, presented at the 2021 virtual WMS Annual Congress, presents a comparison of ambulatory outcomes following treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) in a registry study and a Phase 3 clinical trial
This poster, from the 2021 virtual AAN meeting, presents findings of a review of real-world steroid switching in US patients with muscular dystrophies
This poster, from the 2021 virtual AAN meeting, provides results from a study evaluating the efficacy of a mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD)
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 poster, from the virtual 2021 ICNMD meeting, shows the demographic and safety data for patients included in the STRIDE Registry population
This poster, presented at the 2021 virtual MDA Conference, presents findings from a literature review to determine core prognostic indicators for DMD, to help inform propensity score-matching models in studies
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
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
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
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
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
View the PTC Therapeutics symposium at SSIEM 2021, which discusses the key signs and symptoms, diagnostic tools, and management options in 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
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 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 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
The PTC Therapeutics symposium at CNS 2021 presents different clinical perspectives and experiences of an investigational gene therapy for the treatment of AADC deficiency
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
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
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
This infographic, distributed at ISPMD 2022, provides an overview on the rare nature 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 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
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
View the infographic distributed at our CNS 2020 symposium, which summarizes the differential diagnosis and management of AADC deficiency
View our symposium presentation at CNS 2020, which discusses making a differential diagnosis of AADC deficiency
Watch our virtual symposium at ICNMD 2020, which discusses long-term real-world evidence (RWE) regarding ataluren use in patients with nonsense mutation DMD (nmDMD)
The outlook of gene therapy for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency are discussed in our infographic distributed at ASGCT 2020
View this infographic distributed at the GSMDE Symposium 2020 which outlines the clinical diagnostics tests for, and the management of, AADC deficiency
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