All congress activities

View all SSIEM 2022 poster: A two-part, international, real-world, observational registry of participants diagnosed with aromatic L-amino acid decarboxylase deficiency (AADC-d) with or without treatment with eladocagene exuparvovec SSIEM 2022 poster: Demographics and baseline characteristics of patients with cerebral palsy of unknown aetiology in the REVEAL-CP observational study EPNS 2022 infographic: Unmasking AADC deficiency: An underdiagnosed and underreported neurometabolic disorder EPNS 2022 symposium: Unmasking AADC deficiency: An underdiagnosed and underreported neurometabolic disorder SIMD 2022 Infographic: Advancing the diagnosis and management of a rare neurometabolic disorder: A focus on AADC deficiency SIMD 2022 symposium: Advancing the diagnosis and management of a rare neurometabolic disorder: A focus on AADC deficiency SIMD 2022 poster: The DDC locus-specific database of variants causing aromatic amino acids decarboxylase (AADC) deficiency SIMD EPNS 2022 poster: Comparison of change in ability to perform timed function tests in nmDMD patients receiving ataluren: STRIDE Registry vs Phase 3 clinical trial EPNS 2022 poster: Comparing the change in 6-minute walk distance in nmDMD patients receiving ataluren: STRIDE Registry compared with Phase 3 clinical trial ISPOR 2022 poster: Symptoms and impacts of aromatic L-amino acid decarboxylase deficiency among individuals with different levels of motor function ISPOR AAN 2022 poster: Associations between deflazacort versus prednisone/prednisolone and markers of disease progression in clinically important subgroups of patients with Duchenne muscular dystrophy AAN 2022 poster: Associations between steroid treatment and clinical outcomes among non-ambulatory patients with Duchenne muscular dystrophy (DMD) MDA 2022 infographic: Throughout the disease continuum: Corticosteroid treatment in Duchenne muscular dystrophy MDA 2022 symposium: Throughout the disease continuum: Corticosteroid treatment in Duchenne muscular dystrophy MDA 2022 poster: Comparison of North Star Ambulatory Assessment score change in nmDMD patients receiving ataluren: STRIDE Registry vs Phase 3 clinical trial MDA 2022 poster: Associations between steroid treatment and clinical outcomes among non-ambulatory patients with Duchenne muscular dystrophy (DMD) MDA 2022 poster: Associations between deflazacort vs prednisone/prednisolone and disease progression markers in subgroups of patients with Duchenne muscular dystrophy MDA 2022 poster: Associations between daily deflazacort or prednisone and ages at disease progression milestones among patients with Duchenne muscular dystrophy (DMD) MDA 2022 poster: Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE Registry and CINRG Natural History Study: A matched cohort analysis MDA 2022 poster: Age at loss of ambulation in patients with DMD from the STRIDE Registry and the CINRG Natural History Study: A matched cohort analysis MDA 2022 poster: Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry AAN AMCP APS ESGCT IEC SSIEM ICIEM AMCP 2021 poster: Ataluren delays loss of ambulation (LoA) and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) AMCP 2021 poster: Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy (nmDMD): A qualitative study and the development of a patient-centered conceptual model AMCP 2021 poster: Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy (nmDMD) at different stages of ambulation AMCP 2021 poster: Disease progression indicators in Duchenne muscular dystrophy (DMD) for use in matched analyses comparing treatment effects: A targeted literature review MDA 2021 poster: Steroid switching in the treatment of dystrophinopathies in the US: A nationwide chart review of patient characteristics and clinical outcomes MDA 2021 poster: Propensity score-matching enables comparison of rare disease product registry data with an external study comparator MDA 2021 poster: Ataluren delays loss of ambulation (LoA) and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) WMS 2021 poster: Comparison of North Star Ambulatory Assessment score change in nonsense mutation Duchenne muscular dystrophy patients receiving ataluren: STRIDE Registry vs Phase 3 clinical trial ICNMD 2021 poster: Pulmonary function in non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) from the STRIDE ataluren Registry and CINRG Duchenne Natural History Study (CINRG DNHS): A matched cohort analysis ICNMD 2021 poster: Ataluren delays loss of ambulation (LoA) and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy (DMD) AAN 2021 poster: Steroid switching in the treatment of dystrophinopathies in the US: A nationwide chart review of patient characteristics and clinical outcomes AAN 2021 poster: Ataluren delays loss of ambulation and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy IEC 2021 Symposium: A practical approach: Epilepsy misdiagnosis in clinical practice Europaediatrics 2021 Symposium: Recognising rare neurometabolic disorders – The journey starts with you ICNMD 2021 poster: Demographic and safety data from patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving ataluren in the STRIDE Registry MDA 2021 poster: Disease progression indicators in Duchenne muscular dystrophy (DMD) for use in matched analyses comparing treatment effects: A targeted literature review APS 2021 infographic: Innovating in rare neurometabolic disorders: A focus on AADC deficiency SSIEM 2021 infographic: Rare disorders of monoamine metabolism: A focus on aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2021 infographic: Advancing the care of a pediatric neurotransmitter disorder: Experience with an investigational intraputaminal gene replacement therapy for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency ESGCT 2021 infographic: Pioneering in gene therapies: Sharing our experience with aromatic L-amino acid decarboxylase (AADC) deficiency IEC 2021 infographic: A practical approach: Epilepsy misdiagnosis in clinical practice ICIEM 2021 Symposium: Rare neurometabolic disorders: A focus on aromatic L-amino acid decarboxylase (AADC) deficiency SSIEM 2021 Symposium: Rare disorders of monoamine metabolism: A focus on aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2021 Symposium: Advancing the care of a pediatric neurotransmitter disorder: Experience with an investigational intraputaminal gene replacement therapy for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency ESGCT 2021 Symposium: Pioneering in gene therapies: Sharing our experience with aromatic L-amino acid decarboxylase (AADC) deficiency APS 2021 Symposium: Innovating in rare neurometabolic disorders: A focus on AADC deficiency ISPMD 2022 poster: Early clinical improvements following treatment with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase (AADC) deficiency ISPMD 2022 poster: A mobile domiciliary phlebotomy service to support rare disease patients and study sites with clinical study recruitment in the UK ISPMD 2022 symposium: The shifting treatment landscape for pediatric movement disorders: Investigational gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency ISPMD 2022 infographic: The shifting treatment landscape for pediatric movement disorders: A focus on aromatic L-amino acid decarboxylase (AADC) deficiency ISPMD CNS 2021 poster: Reductions in oculogyric crisis duration and frequency in children with aromatic L-amino acid decarboxylase (AADC) deficiency treated with eladocagene exuparvovec gene therapy: Results from 3 clinical trials CNS 2021 poster: Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2021 poster: Eladocagene exuparvovec improves body weight and reduces respiratory infections in patients with aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2021 poster: Gene therapy with eladocagene exuparvovec improves cognition and language in patients ​with aromatic L-amino acid decarboxylase (AADC) deficiency SpliceCon DDW 2020 abstract: Improved gastric accommodation in women with moderate or severe diabetic gastroparesis randomized to oral CNSA-001 (sepiapterin) versus placebo  DDW ESMO EORTC-NCI-AACR ASCO AACR WMF ICAR EHA DDW 2020 poster: Improved gastric accommodation in women with moderate or severe diabetic gastroparesis randomized to oral CNSA-001 (sepiapterin) versus placebo SpliceCon 2021 poster: Small molecule splicing modifiers with systemic HTT-lowering activity EHA 2019 poster: PTC299 is a novel dihydroorotate dehydrogenase (DHODH) inhibitor for use in treatment of acute myeloid leukemia (AML)​ EHA 2019 Abstract: Inhibition of de novo pyrimidine nucleotide synthesis by the novel dihydroorotate dehydrogenase (DHODH) inhibitor PTC299 induces differentiation and/or death of acute myeloid leukemia (AML) cells ICAR 2021 Poster: The dihydroorotate dehydrogenase (DHODH) inhibitor PTC299 arrests SARS-CoV-2 replication and suppresses induction of inflammatory cytokines implicated in COVID-19 disease and is currently being evaluated in the FITE19 clinical trial in hospitalized patients AACR 2019 poster: PTC596 combination therapy for sarcoma ASCO 2017 poster: Phase 1b results of PTC596, a novel small molecule targeting cancer stem cells (CSCs) by reducing levels of BMI1 protein EORTC-NCI-AACR Symposium 2016 poster: Preliminary Phase 1 results of PTC596, a novel small molecule targeting cancer stem cells (CSCs) by reducing levels of BMI1 protein ESMO 2016 poster: First-in-human Phase 1 results of PTC596, a novel small molecule that targets cancer stem cells (CSCs) by reducing BMI1 protein levels SIMD 2019 Poster: Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers ISPOR 2021 Poster: Prevalence of Friedreich’s ataxia (FA): A systematic literature review ISPOR 2021 Abstract: Prevalence of Friedreich’s ataxia (FA): A systematic literature review ICAR 2021 abstract: The DHODH inhibitor PTC299 arrests SARS-CoV-2 replication and suppresses induction of inflammatory cytokines implicated in severe COVID-19 disease and is currently being evaluated in the FITE19 clinical trial in hospitalized patients  WMF 2021 abstract: The DHODH inhibitor PTC299 arrests SARS-CoV-2 replication and suppresses induction of inflammatory cytokines implicated in COVID-19 disease and is currently being evaluated in the multinational FITE19 Phase 2/3 clinical trial in hospitalized patients EPNS ICNMD WMS 2020 poster: Ataluren delays loss of ambulation and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) CNS WMS MDA GSMDE ASGCT CNS 2020 Infographic: Distinguishing pediatric movement disorders: Uncovering aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2020 presentation: Distinguishing pediatric movement disorders: Uncovering aromatic L-amino acid decarboxylase (AADC) deficiency MDA 2020 infographic: DMD: Examining the totality of evidence for corticosteroid treatment CNS 2020 symposium: Distinguishing pediatric movement disorders: Uncovering aromatic L-amino acid decarboxylase (AADC) deficiency ICNMD 2020 virtual symposium: Advancing the management of Duchenne muscular dystrophy (DMD): The role of real-world evidence MDA 2020 virtual session: Duchenne muscular dystrophy (DMD): Examining the totality of evidence for corticosteroid treatment ASGCT 2020 Infographic: From bench to bedside: Uncovering the potential of gene therapy MDA 2020 abstract: Pulmonary function in non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) from the STRIDE Registry and CINRG Duchenne Natural History Study: A matched cohort analysis MDA 2020 poster: Pulmonary function in non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) from the STRIDE ataluren Registry and CINRG Duchenne Natural History Study: A matched cohort analysis MDA 2020 abstract: Demographic and safety data from patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving ataluren in the STRIDE Registry MDA 2020 poster: Demographic and safety data from patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving ataluren in the STRIDE Registry CNS 2019 poster: Phase 2 trials to assess production of dystrophin protein in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) receiving ataluren EPNS 2019 satellite symposium [Key takeaways]: A window on something rare: Understanding aromatic L-amino acid decarboxylase (AADC) deficiency CNS 2019 symposium [Key takeaways]: Cerebral palsy mimics: Differentiating pediatric movement disorders
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 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, 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
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 
This poster, presented at the 2021 ICAR virtual meeting, shows results from experiments to investigate a novel DHODH inhibitor as a potential treatment for COVID-19 
This abstract, presented at the 2021 ICAR virtual conference, reports on a novel dihydroorotate dehydrogenase (DHODH) inhibitor as a possible treatment for COVID-19 
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MED-ALL-AADC-2200099 | June 2022
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