This trial is active, not recruiting.

Condition rett syndrome
Treatment glatiramer acetate
Phase phase 2
Sponsor Montefiore Medical Center
Collaborator Rett Syndrome Research Trust
Start date August 2013
End date August 2014
Trial size 20 participants
Trial identifier NCT02153723, Rett Syndome 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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification safety/efficacy study
Intervention model single group assignment
Masking open label
Primary purpose treatment
Dose escalation: 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.
glatiramer acetate Copaxone

Primary Outcomes

Gait speed
time frame: 32 weeks

Secondary Outcomes

autonomic (respiratory) function
time frame: 32 weeks

Eligibility Criteria

Female participants at least 10 years old.

Inclusion Criteria: - Female patients with genetically confirmed RTT - Age: 10 or more years old. Selection of the age is based on the available evidence of the safety of 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 enrolment) - Presence of co morbid non-Rett related disease - Presence of immunodeficiency requiring IVIG 3 months prior to enrollment - Allergy/sensitivity to GA or mannitol - Inability or unwillingness of legal guardians to give written informed consent

Additional Information

Official title Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
Description 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.
Trial information was received from ClinicalTrials.gov and was last updated in April 2015.
Information provided to ClinicalTrials.gov by Montefiore Medical Center.