Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
| Status: | Completed |
|---|---|
| Conditions: | Other Indications, Neurology |
| Therapuetic Areas: | Neurology, Other |
| Healthy: | No |
| Age Range: | 10 - Any |
| Updated: | 11/7/2018 |
| Start Date: | August 2013 |
| End Date: | January 2016 |
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.
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.
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.
Inclusion Criteria:
- Female patients with genetically confirmed Rett Syndrome (RTT)
- Age: 10 or more years old. Selection of the age is based on the available evidence of
the safety of Glatiramer Acetate (GA) in this group, and the relative
homogeneity/stability of the phenotype, which is not expected to spontaneously change
within a 6 month period at this age
- Ambulatory (with our without support)
Exclusion Criteria:
- Prolonged Qtc (obtained within 30 days prior to enrollment)
- Presence of co morbid non-Rett related disease
- Presence of immunodeficiency requiring intravenous immunoglobulin 3 (IVIG 3) months
prior to enrollment
- Allergy/sensitivity to GA or mannitol
- Inability or unwillingness of legal guardians to give written informed consent
We found this trial at
1
site
Montefiore Medical Center As the academic medical center and University Hospital for Albert Einstein College...
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