This poster, presented at MDA 2024, reviews the rating scales used in Friedreich’s ataxia, and how patient outcomes change with vatiquinone
This oral presentation, presented at MDA 2024, provides insight into the Phase 3 clinical trial data of an investigational treatment for Friedreich’s ataxia
This poster, presented at MDA 2024, explores the use of ataluren to prevent ambulatory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
This poster, presented at MDA 2024, provides insights into the demographics of young patients with Duchenne muscular dystrophy (DMD) who are receiving deflazacort in the US
This poster, presented at ISPMD 2024, explores the administration of eladocagene exuparvovec using the SmartFlow magnetic resonance (MR)-compatible ventricular cannular in pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency
This poster presentation, as part of WMS 2023, explores the effects of ataluren on muscle function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) across 3 clinical trials
This poster presentation, given as part of WMS 2023, explores the effect of ataluren on age at loss of ambulation vs standard of care (SoC) alone on patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
This poster presentation, developed as part of WMS 2023, explores data from the STRIDE Registry and CINRG Natural History Study to assess the effect of mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) on pulmonary function
This poster presentation, given as part of WMS 2023, explores the safety data of ataluren in patients with nonsense mutation Duchenne muscular dystrophy and a variety of characteristics
This poster, presented at WMS 2023, explores the effects of ataluren on muscle function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) across 3 clinical trials
This poster, presented at WMS 2023, explores the effect of ataluren and standard of care (SoC) receival on age at loss of ambulation in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) vs SoC alone
This poster, presented at WMS 2023, provides results of a propensity score-matched registry analysis, using data from the STRIDE Registry and CINRG Natural History Study, to assess the effect of mutation-specific treatment for nonsense mutation Duchenne muscular dystrophy (nmDMD) on pulmonary function
This poster, presented at WMS 2023, explores the safety data and demographics of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) after receiving ataluren
This symposium, presented at ESGCT 2023, provides an overview of the benefits of gene therapy for patients with aromatic L-amino acid decarboxylase (AADC) deficiency
The PTC Therapeutics ‘Connecting the dots’ symposium at WMS 2023 provided an overview of the latest clinical and real-world evidence in nonsense mutation Duchenne muscular dystrophy (nmDMD), and highlighted the importance of continuity in all-around care. This infographic from the symposium summarizes the key evidence presented
This symposium, presented at WMS 2023, provides an overview of clinical trial and real-world data for nonsense mutation Duchenne muscular dystrophy (nmDMD) and examines the importance of all-around care for DMD
This infographic, distributed at NSGC 2023, provides an overview of the development of aromatic L-amino acid decarboxylase (AADC) deficiency, as well as the preliminary and core diagnostic tests that should be used for patients with key signs and symptoms
This poster, presented at NSGC 2023, provides an overview of the utilization of artificial intelligence in analyzing Electronic Health Record (EHR) data to identify patients who may be at increased risk of aromatic L-amino acid decarboxylase (AADC) deficiency, with the aim of decreasing diagnostic delay for patients
This infographic, presented at ESGCT 2023, provides an overview of the signs and symptoms of aromatic L-amino acid decarboxylase (AADC) deficiency and the use of gene therapy for treating this rare disease
This oral presentation at AAN 2023 explored the use of 3 corticosteroids in a Duchenne muscular dystrophy (DMD) mouse model. The study monitored pharmacokinetics and biodistribution, the efficacy on muscle function and damage, and explored potential side effects
This AAN 2023 oral presentation focused on ataluren use for the treatment of nonsense mutation Duchene muscular dystrophy (nmDMD) patients. The symposium detailed the efficacy and safety profile of ataluren in Study 041
This oral presentation at AAN 2023 discussed eladocagene exuparvovec, a gene therapy for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, focusing on the efficacy and safety data from three clinical trials
This symposium at SSIEM 2023 discussed the results of the Phase 3 APHENITY trial, investigating the safety and efficacy of sepiapterin in patients with phenylketonuria (PKU)
This infographic distributed at SSIEM 2023 highlights the results of the Phase 3 APHENITY trial, which investigated the safety and efficacy of sepiapterin in patients with phenylketonuria (PKU)
This symposium, presented at SSIEM 2023, provides an overview of the identification and diagnosis of patients with aromatic L-amino acid decarboxylase (AADC) deficiency. It also focuses on the potential of gene therapy as a treatment option
This infographic, distributed at the PTC Therapeutics symposium at SSIEM 2023, gives an overview of the diagnosis and treatment of aromatic L-amino acid decarboxylase (AADC) deficiency
The PTC Therapeutics symposium at MDA 2023 focused on all-around care for Duchenne muscular dystrophy (DMD). This symposium detailed how corticosteroids can be integrated into all-around DMD care
The PTC Therapeutics symposium at MDA 2023 focused on all-around care for Duchenne muscular dystrophy (DMD). This infographic, distributed during the symposium, provides a summary of how corticosteroids can be integrated into all-around DMD care
This symposium, presented at ESGCT 2022, provides an overview of gene therapy as a strategy for the management of AADC deficiency
This poster, presented at MDA 2023, provides an overview of a phase 3 placebo-controlled trial assessing the motor function of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) treated with ataluren
This poster, presented at MDA 2023, assesses the efficacy of ataluren on muscle function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) over 3 trials
This poster, presented at MDA 2023, provides an overview of a phase 3 trial assessing the effects of ataluren on muscle burst activity in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
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 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, 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)
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
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