Rett Syndrome Clinical Trial
Official title:
Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
A phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls. The drug, Copaxone (generic name - Glatiramer acetate) is medication FDA approved for the treatment of multiple sclerosis. Copaxone's high safety profile has been documented in large cohorts of patients for more than 12 years.
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.
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