Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
|Study Design:||Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)|
- Gait speed [ Time Frame: 32 weeks ]To perform quantitative gait assessments a computerized walkway (457 × 90.2 × 0.64cm) with embedded pressure sensors (GAIT Rite system) will be used. Subjects will be asked to walk on the walkway for two trials wearing comfortable footwear.
- autonomic (respiratory) function [ Time Frame: 32 weeks ]Wake respirations using the NOX 3 . During one of the three days of monitoring, we will also monitor the same parameters with sleep monitoring equipment during the daytime at the polysomnography laboratory with additional oronasal airflow, EMG, EEG and video monitoring to confirm wakefulness during the period of study.
- visual attention, memory and visual pursuit [ Time Frame: 32 weeks ]Eye-tracking data will be recorded at 300 Hz sampling rate using a Tobii T300 (Tobii Technology AB, Danderyd, Sweden).
- EEG [ Time Frame: 32 weeks ]routine EEG
- Quality of life [ Time Frame: 32 weeks ]The Child Health Questionnaire- Parent Report (CHQ-PF50) The CHQ-PF50 includes broad-spectrum areas, which can be divided in-to 12 domains: Physical Functioning, Role/Social Limitations-Emotional/Behavioral, Role/Social Limitations-Physical, Behav-ior, Mental Health, Self-Esteem, General Health, Bodily Pain, Family Activities, Parent Impact-Time, Parent Impact-Emotional, and Family Cohesion.
|Study Start Date:||August 2013|
|Estimated Study Completion Date:||June 2015|
|Primary Completion Date:||August 2014 (Final data collection date for primary outcome measure)|
Study drug will be administered once a week for 4 weeks, twice a week for 4 weeks and daily for 24 weeks. Drug is administered as a subcutaneous injection.
Drug: Glatiramer Acetate
Other Name: Copaxone
Background/rationale for the study:
In Rett syndrome brain cells aren't actually lost, instead poor maturation of connections between brain cells (synapses) prevents effective neurological functioning, and is the main morphological feature of the disease. The MeCP2 gene plays a major role in transcriptional regulation of other genes, one of which is the gene encoding brain-derived neurotrophic factor (BDNF).
The disease progression and severity of symptoms is directly affected by the level of BDNF expression. An increase of BDNF levels (by genetic manipulations or pharmacological agents) leads to delayed onset of Rett syndrome-like symptoms in experimental models; rescued gait/mobility, improved quality of life and increased survival rates.
Copaxone treatment by subcutaneous injection caused elevation of BDNF levels. Quantitative immunofluorescence assays showed about a twofold increase in neuronal expression of BDNF following Copaxone treatment.
We expect that an increase in BDNF levels with Copaxone administration will stimulate communication between brain cells (synaptic maturation), which will lead to amelioration of symptoms (motor functions/gait, cognitive functions, breathing, encephalopathy and improve quality of life) for girls with Rett syndrome.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02153723
|United States, New York|
|Montefiore Medical center|
|Bronx, New York, United States, 10467|