Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT02153723
Study type Interventional
Source Montefiore Medical Center
Contact
Status Completed
Phase Phase 2
Start date August 2013
Completion date January 2016

See also
  Status Clinical Trial Phase
Completed NCT04988867 - An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome Phase 2/Phase 3
Recruiting NCT00069550 - Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Phase 3
Enrolling by invitation NCT06139172 - Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities N/A
Not yet recruiting NCT04014985 - Patients With RETT Syndrome N/A
Not yet recruiting NCT04041713 - A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Phase 2
Completed NCT02705677 - Biobanking of Rett Syndrome and Related Disorders
Terminated NCT02790034 - Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Phase 2/Phase 3
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT05932589 - Neurophysiologic Biomarkers in Rett Syndrome
Recruiting NCT04463316 - GROWing Up With Rare GENEtic Syndromes
Completed NCT04776746 - Open-Label Extension Study of Trofinetide for Rett Syndrome Phase 3
Completed NCT04181723 - Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDERâ„¢) Phase 3
Enrolling by invitation NCT03836300 - Parent and Infant Inter(X)Action Intervention (PIXI) N/A
Completed NCT04514549 - ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME
Completed NCT02738281 - Natural History of Rett Syndrome & Related Disorders
Terminated NCT02562820 - An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Phase 1
Completed NCT05687214 - Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome N/A
Recruiting NCT06199700 - Esketamine for the Treatment of Rett Syndrome Early Phase 1
Completed NCT03941444 - ANAVEX2-73 Study in Patients With Rett Syndrome Phase 3
Recruiting NCT06346106 - The Diagnostic Experience of Male Rett Syndrome