Abstract
Background
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.
Methods
Phase two, open label, single center trial. Inclusion criteria: 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.
Results
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.
Conclusions
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.
Keywords
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Article info
Publication history
Published online: May 27, 2016
Accepted:
May 20,
2016
Received:
February 27,
2016
Identification
Copyright
© 2016 Elsevier Inc. All rights reserved.
