title: Pharmacologic Treatment of Rett Syndrome With Glatiramer Acetate.
abstract: Rett syndrome (RTT) is a severe neurological disease that primarily affects females. The level of brain derived neurotropic factor (BDNF) expression directly correlates with the severity of RTT related symptoms. Because Glatiramer acetate (GA) stimulates secretion of BDNF in the brain, we conducted the study with the objective to assess its efficacy in improving gait velocity cognition, respiratory function, electroencephalographic findings, and quality of life in patients with RTT.
  
  
  
  Phase two, open label, single center trial.
  
  
  
  ambulatory girls with genetically confirmed RTT, 10 years or older. Pre- and post-treatment measures were compared using the non-parametric Wilcoxon signed rank sum test and paired t-tests.
  
  
  
  Ten patients were enrolled and completed the trial. Gait velocity improved significantly (improvement range 13%-95%, p=0.03 for both tests) and emerged as an especially valuable outcome measure with excellent test- retest reliability of the 2 trials within sessions (intraclass correlation coefficient=0.94). Memory, and the breath holding index also improved significantly (p≤0.03). Epileptiform discharges decreased in all four patients who had them at baseline. There was a trend towards improved quality of life, which did not reach statistical significance.
  
  
  
  This prospective open-label trial provides important preliminary information related to the efficacy of GA in improving gait velocity in female patients with RTT who are 10 years or older. The results of this trial justify the need for larger scale controlled trials of GA as well as provide a template for assessing the efficacy of other interventions in RTT.
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York; Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York. Electronic address: adjukic@montefiore.org.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Djukic
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York; Ferkauf Graduate School of Psychology of Yeshiva University, Bronx, New York.
authors.forename: Roee
authors.initials: R
authors.lastname: Holtzer
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York; Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Shlomo
authors.initials: S
authors.lastname: Shinnar
authors.affiliation: Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Hiren
authors.initials: H
authors.lastname: Muzumdar
authors.affiliation: Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Susan A
authors.initials: SA
authors.lastname: Rose
authors.affiliation: Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Wenzhu
authors.initials: W
authors.lastname: Mowrey
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York; Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Aristea S
authors.initials: AS
authors.lastname: Galanopoulou
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Ruth
authors.initials: R
authors.lastname: Shinnar
authors.affiliation: Department of Social Sciences, Queensborough Community College, City University of New York, Bayside, New York.
authors.forename: Jeffrey J
authors.initials: JJ
authors.lastname: Jankowski
authors.affiliation: Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Judith F
authors.initials: JF
authors.lastname: Feldman
authors.affiliation: Department of Pediatrics, Weill Cornell Medical College, New York, New York.
authors.forename: Sophia
authors.initials: S
authors.lastname: Pillai
authors.affiliation: Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York; Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: Solomon L
authors.initials: SL
authors.lastname: Moshé
mesh_terms: D000293:Adolescent; D001921:Brain / Q000187:drug effects / Q000503:physiopathology; D002648:Child; D003071:Cognition / Q000187:drug effects; D004569:Electroencephalography; D005260:Female; D005684:Gait / Q000187:drug effects; D000068717:Glatiramer Acetate / Q000627:therapeutic use*; D006801:Humans; D009465:Neuromuscular Agents / Q000627:therapeutic use*; D010865:Pilot Projects; D012119:Respiration / Q000187:drug effects; D015518:Rett Syndrome / Q000188:drug therapy* / Q000503:physiopathology / Q000523:psychology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D009465:Neuromuscular Agents; D000068717:Glatiramer Acetate
keywords: Rett syndrome; clinical trial; gait; glatiramer acetate