This symposium, presented at SSEIM 2024, provides an overview of sepiapterin as a potential treatment for phenylketonuria (PKU) and its implications for patient management
This symposium, presented at SIMD 2024, discusses the results of the Phase 3 APHENITY trial, which investigated the safety and efficacy of sepiapterin in patients with phenylketonuria (PKU)
This poster, presented at SIMD 2024, discusses the preliminary results from the ongoing APHENITY extension study, which evaluates the safety of sepiapterin and its effect on dietary phenylalanine (Phe) consumption in participants with phenylketonuria (PKU)
This poster, presented at SIMD 2024, evaluates the efficacy and safety data of sepiapterin vs placebo in patients with phenylketonuria (PKU) who were receiving sapropterin dihydrochloride at the time of APHENITY study entry
This poster, presented at GMDI 2024, describes the APHENITY extension study phenylalanine (Phe) tolerance assessment design and reports on the compliance rate for 3-day diet diaries among participants
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 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 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)
Year
Therapy area
Congress
Type
Topic