Clinical Trial: Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)

Study Status: Completed
Recruit Status: Unknown status
Study Type: Interventional

Official Title: Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)

Brief Summary: 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.

Detailed Summary:

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.


Sponsor: Montefiore Medical Center

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome: 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.


Original Secondary Outcome: Same as current

Information By: Montefiore Medical Center

Dates:
Date Received: May 26, 2014
Date Started: August 2013
Date Completion: June 2015
Last Updated: April 19, 2015
Last Verified: April 2015