Trial record 8 of 51 for:    rett

Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02153723
Recruitment Status : Unknown
Verified April 2015 by Aleksandra Djukic, Montefiore Medical Center.
Recruitment status was:  Active, not recruiting
First Posted : June 3, 2014
Last Update Posted : April 21, 2015
Rett Syndrome Research Trust
Information provided by (Responsible Party):
Aleksandra Djukic, Montefiore Medical Center

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.

Condition or disease Intervention/treatment Phase
Rett Syndrome Drug: Glatiramer Acetate Phase 2

Detailed 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.

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
Study Start Date : August 2013
Actual Primary Completion Date : August 2014
Study Completion Date : June 2015

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome

Arm Intervention/treatment
Experimental: Copaxone

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.

Drug: Glatiramer Acetate
Other Name: Copaxone

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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.

Other Outcome Measures:
  1. 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).

  2. EEG [ Time Frame: 32 weeks ]
    routine EEG

  3. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02153723

United States, New York
Montefiore Medical center
Bronx, New York, United States, 10467
Sponsors and Collaborators
Montefiore Medical Center
Rett Syndrome Research Trust

Responsible Party: Aleksandra Djukic, Associate Professor of Clinical Neurology and Clinical Pediatrics, Director, Tri State Rett Syndrome Center, Montefiore Medical Center Identifier: NCT02153723     History of Changes
Other Study ID Numbers: Rett Syndome Copaxone
First Posted: June 3, 2014    Key Record Dates
Last Update Posted: April 21, 2015
Last Verified: April 2015

Keywords provided by Aleksandra Djukic, Montefiore Medical Center:
Treatment trial

Additional relevant MeSH terms:
Rett Syndrome
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Glatiramer Acetate
Adjuvants, Immunologic
Immunologic Factors
Physiological Effects of Drugs
Immunosuppressive Agents
Antirheumatic Agents