PMID- 31036580
OWN - NLM
STAT- MEDLINE
DCOM- 20191218
LR  - 20200309
IS  - 1526-632X (Electronic)
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 92
IP  - 18
DP  - 2019 Apr 30
TI  - A phase 3 randomized study evaluating sialic acid extended-release for GNE 
      myopathy.
PG  - e2109-e2117
LID - 10.1212/WNL.0000000000006932 [doi]
AB  - 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 efficacy and 
      safety of Ace-ER in patients with GNE myopathy. Participants who could walk >/=200 
      meters in a 6-minute walk test at screening were randomized 1:1, and stratified 
      by sex, to receive Ace-ER 6 g/d or placebo for 48 weeks and assessed every 8 
      weeks. The primary endpoint was change in muscle strength over 48 weeks measured 
      by upper extremity composite (UEC) score. Key secondary endpoints included change 
      in lower extremity composite (LEC) score, knee extensor strength, and GNE 
      myopathy-Functional Activity Scale (GNEM-FAS) mobility domain score. Safety 
      assessments included adverse events (AEs), vital signs, and clinical laboratory 
      results. RESULTS: Eighty-nine patients were randomized (Ace-ER n = 45; placebo n 
      = 44). Change from baseline to week 48 for UEC score between treatments did not 
      differ (least square mean [LSM] Ace-ER -2.25 kg vs placebo -2.99 kg; LSM 
      difference confidence interval [CI] 0.74 [-1.61 to 3.09]; p = 0.5387). At week 
      48, there was no significant difference between treatments for the change in key 
      secondary endpoints: LEC LSM difference (CI) -1.49 (-5.83 to 2.86); knee 
      extension strength -0.40 (-2.38 to 1.58); and GNEM-FAS mobility domain score 
      -0.72 (-2.01 to 0.57). Gastrointestinal events were the most common AEs. 
      CONCLUSIONS: Ace-ER was not superior to placebo in improving muscle strength and 
      function in patients with GNE myopathy. CLASSIFICATION OF EVIDENCE: This study 
      provides Class I evidence that for patients with GNE myopathy, Ace-ER does not 
      improve muscle strength compared to placebo.
CI  - Copyright (c) 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on 
      behalf of the American Academy of Neurology.
FAU - Lochmuller, Hanns
AU  - Lochmuller H
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany. hanns.lochmuller@gmail.com.
FAU - Behin, Anthony
AU  - Behin A
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Caraco, Yoseph
AU  - Caraco Y
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Lau, Heather
AU  - Lau H
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Mirabella, Massimiliano
AU  - Mirabella M
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Tournev, Ivailo
AU  - Tournev I
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Tarnopolsky, Mark
AU  - Tarnopolsky M
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Pogoryelova, Oksana
AU  - Pogoryelova O
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Woods, Catherine
AU  - Woods C
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Lai, Alexander
AU  - Lai A
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Shah, Jinay
AU  - Shah J
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Koutsoukos, Tony
AU  - Koutsoukos T
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Skrinar, Alison
AU  - Skrinar A
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Mansbach, Hank
AU  - Mansbach H
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Kakkis, Emil
AU  - Kakkis E
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
FAU - Mozaffar, Tahseen
AU  - Mozaffar T
AD  - From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, 
      Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research 
      Institute (H.L.), University of Ottawa; Division of Neurology, Department of 
      Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Reference de 
      Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier 
      Pitie-Salpetriere, Paris, France; Hadassah Clinical Research Center (Y.C.), 
      Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of 
      Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, 
      NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic 
      University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic 
      Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of 
      Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and 
      Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of 
      Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University 
      Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., 
      J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine 
      (T.M.), Orange. H.L. is currently affiliated with the Department of 
      Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, 
      Faculty of Medicine, Germany.
LA  - eng
GR  - UL1 TR001414/TR/NCATS NIH HHS/United States
PT  - Clinical Trial, Phase III
PT  - Journal Article
PT  - Multicenter Study
PT  - Randomized Controlled Trial
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20190125
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (Delayed-Action Preparations)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
RN  - Distal myopathy, Nonaka type
SB  - IM
MH  - Adult
MH  - Delayed-Action Preparations/administration & dosage/therapeutic use
MH  - Distal Myopathies/*drug therapy
MH  - Double-Blind Method
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Muscle Strength/*drug effects
MH  - Muscle, Skeletal/*drug effects
MH  - N-Acetylneuraminic Acid/administration & dosage/*therapeutic use
MH  - Treatment Outcome
MH  - Young Adult
PMC - PMC6512882
EDAT- 2019/05/01 06:00
MHDA- 2019/12/19 06:00
PMCR- 2019/04/30
CRDT- 2019/05/01 06:00
PHST- 2018/07/25 00:00 [received]
PHST- 2018/11/20 00:00 [accepted]
PHST- 2019/05/01 06:00 [entrez]
PHST- 2019/05/01 06:00 [pubmed]
PHST- 2019/12/19 06:00 [medline]
PHST- 2019/04/30 00:00 [pmc-release]
AID - WNL.0000000000006932 [pii]
AID - NEUROLOGY2018923904 [pii]
AID - 10.1212/WNL.0000000000006932 [doi]
PST - ppublish
SO  - Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. 
      Epub 2019 Jan 25.