Cargando…

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

OBJECTIVE: To investigate the efficacy and safety of aceneuramic acid extended-release (Ace-ER), a treatment intended to replace deficient sialic acid, in patients with GNE myopathy. METHODS: UX001-CL301 was a phase 3, double-blind, placebo-controlled, randomized, international study evaluating the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lochmüller, Hanns, Behin, Anthony, Caraco, Yoseph, Lau, Heather, Mirabella, Massimiliano, Tournev, Ivailo, Tarnopolsky, Mark, Pogoryelova, Oksana, Woods, Catherine, Lai, Alexander, Shah, Jinay, Koutsoukos, Tony, Skrinar, Alison, Mansbach, Hank, Kakkis, Emil, Mozaffar, Tahseen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2019
Materias:	Null Hypothesis
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512882/ https://www.ncbi.nlm.nih.gov/pubmed/31036580 http://dx.doi.org/10.1212/WNL.0000000000006932

Ejemplares similares

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
por: Lochmüller, Hanns, et al.
Publicado: (2021)

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
por: Pogoryelova, Oksana, et al.
Publicado: (2018)

GNE genotype explains 20% of phenotypic variability in GNE myopathy
por: Pogoryelova, Oksana, et al.
Publicado: (2019)

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model
por: Chan, Yiumo Michael, et al.
Publicado: (2017)

GNE myopathy: from clinics and genetics to pathology and research strategies
por: Pogoryelova, Oksana, et al.
Publicado: (2018)

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study
por: Argov, Zohar, et al.
Publicado: (2016)

GNE myopathy: History, etiology, and treatment trials
por: Mullen, Jeffrey, et al.
Publicado: (2022)

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
por: Argov, Zohar, et al.
Publicado: (2017)

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies
por: Todd, Joshua J., et al.
Publicado: (2020)

Repetitive TMS does not improve cognition in patients with TBI: A randomized double-blind trial
por: Neville, Iuri Santana, et al.
Publicado: (2019)

INTREPAD: A randomized trial of naproxen to slow progress of presymptomatic Alzheimer disease
por: Meyer, Pierre-François, et al.
Publicado: (2019)

In vivo distribution of α-synuclein in multiple tissues and biofluids in Parkinson disease
por: Chahine, Lana M., et al.
Publicado: (2020)

Natalizumab in acute ischemic stroke (ACTION II): A randomized, placebo-controlled trial
por: Elkind, Mitchell S.V., et al.
Publicado: (2020)

Tumor Necrosis Factor Inhibition and Parkinson Disease: A Mendelian Randomization Study
por: Kang, Xiaoying, et al.
Publicado: (2021)

No Significant Effects of Cellphone Electromagnetic Radiation on Mice Memory or Anxiety: Some Mixed Effects on Traumatic Brain Injured Mice
por: Qubty, Doaa, et al.
Publicado: (2021)

Intermittent Hypoxia Induces Greater Functional Breathing Motor Recovery as a Fixed Rather Than Varied Duration Treatment after Cervical Spinal Cord Injury in Rats
por: Silverstein, Aaron L., et al.
Publicado: (2021)

Activation of the Protein Kinase R–Like Endoplasmic Reticulum Kinase (PERK) Pathway of the Unfolded Protein Response after Experimental Traumatic Brain Injury and Treatment with a PERK Inhibitor
por: Brady, Rhys D., et al.
Publicado: (2021)

Insulin-Like Growth Factor-2 (IGF-2) Does Not Improve Memory in the Chronic Stage of Traumatic Brain Injury in Rodents
por: Redell, John B., et al.
Publicado: (2021)

Relationship between Sport-Related Concussion and Sleep Based on Self-Report and Commercial Actigraph Measurement
por: Considine, Ciaran M., et al.
Publicado: (2021)

White Matter Hyperintensities Are Not Related to Symptomatology or Cognitive Functioning in Service Members with a Remote History of Traumatic Brain Injury
por: Lippa, Sara M., et al.
Publicado: (2021)

Lymphocytes Are Not Required for Neurogenic Heterotopic Ossification Development after Spinal Cord Injury
por: Alexander, Kylie A., et al.
Publicado: (2022)

Solar Panels and Political Attitudes
por: Umit, Resul
Publicado: (2021)

Direct Ryanodine Receptor-2 Knockout in Primary Afferent Fibers Modestly Affects Neurological Recovery after Contusive Spinal Cord Injury
por: Orem, Ben C., et al.
Publicado: (2022)

Plasma UCHL1, GFAP, Tau, and NfL Are Not Different in Young Healthy Persons With Mild COVID-19 Symptoms Early in the Pandemic: A Pilot Study
por: Rogatzki, Matthew J., et al.
Publicado: (2023)

Brain Spectroscopy Analysis in Retired Soccer Players With Chronic Exposure to Mild Traumatic Brain Injuries
por: Resende, Lucas Lopes, et al.
Publicado: (2023)

Fighting the Cause of Alzheimer’s and GNE Myopathy
por: Devi, Shreedarshanee, et al.
Publicado: (2018)

Different electrophysiology patterns in GNE myopathy
por: Liu, Xiangyi, et al.
Publicado: (2022)

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy
por: Cerino, Mathieu, et al.
Publicado: (2015)

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
por: Wu, Yuan, et al.
Publicado: (2018)

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
por: Garland, Jennifer, et al.
Publicado: (2017)

Nationwide patient registry for GNE myopathy in Japan
por: Mori-Yoshimura, Madoka, et al.
Publicado: (2014)

GNE Myopathy with Prominent Axial Muscle Involvement
por: Park, Jin-Mo, et al.
Publicado: (2018)

Genetic and Clinical Spectrum of GNE Myopathy in Russia
por: Murtazina, Aysylu, et al.
Publicado: (2022)

Cell stress molecules in the skeletal muscle of GNE myopathy
por: Fischer, Charlotte, et al.
Publicado: (2013)

Progression of GNE Myopathy Based on the Patient-Reported Outcome
por: Park, Young-Eun, et al.
Publicado: (2019)

The role of amyloid β in the pathological mechanism of GNE myopathy
por: Zhang, Tongtong, et al.
Publicado: (2022)

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
por: Yoshioka, Wakako, et al.
Publicado: (2022)

GNE Myopathy: Two Clusters with History and Several Founder Mutations
por: Argov, Zohar, et al.
Publicado: (2015)

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy
por: Soule, Tyler, et al.
Publicado: (2018)

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
por: Diniz, Gulden, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_344k03e7vacs5ag4q85fsqn201