Time seems to slip by so quickly. The holidays were crazy. We spent ten days in New York City and we're so excited to start the Copaxone trial. The first day consisted of eye gaze testing for memory and retention, gait testing and a pulmonary study (this was the worst - three hours sitting still with no eating, drinking or sleeping). The second day was big - first an EEG and then Charlotte's first injection. Must say everything went smoothly.
I'm going to try and explain in everyday language what we are hoping will result from this trial. Girls with Rett are born with normal, healthy brain cells. However, where things go awry is with the branches that grow from the cells that eventually connect with each other and tell our brain what to do and how to interact with various parts of our mind and body. In girls with Rett Syndrome, these branches sometimes stop growing or don't grow at all, thus inhibiting the brain cells from communicating properly. The hope of the trial is that the medication will trigger the growth of these branches again and thus allow for overall improvement in most aspects of daily life. The only area that we've been told not to expect any major improvements with is speech.
We are now in week four. The first four weeks we are to administer one injection per week, the second month, we will do two injections a week and month three through month eight we will administer daily injections.
So we will wait and see what happens….our doctor has told us not watch Charlotte under a microscope - ha ha - she clearly didn't realize that I am a Jewish mother that has been waiting almost 12 years for something to help my daughter! We are starting to see some improvements - nothing major and not even sure if I'm allowed to write about them yet. (okay - she seems to be moving around a lot quicker, reluctant to want to use her wheelchair when out, and seems more cognitively aware). We will be making monthly trips in January, February and March and then a final trip in August. Think after these past two trips, we've got the traveling part down but still it's still a bit unnerving. It's kind of fun to experience a touch of real winter, given it's going to be 80 degrees in Los Angeles today. I promise to keep this all updated as we move ahead.
This is a journey I never anticipated taking and one I am thrilled to be on. As always, amazed my all the love and support from our family and friends. Ronnie has been our rock - he is always so calm and helps us keep things in perspective. He is also Mr. New York and the king of coordination and planning. Will be missing him on the next couple of trips. Abby and Jonathan have truly stepped up to the plate and were wonderful support for Charlotte on her last trip to NY during all her testing. Abby is set to give Charlotte her next injection on Monday.
Here's link to the more clinical explanation of the trial. Charlotte got the tenth and last spot in this trial. Not sure how she got it, but thankful nonetheless.
We're off to New York again next week!
xo,
Andrea and Charlotte
Clinical Trial For Rett Syndrome Launched
“Pharmacological Treatment of Rett Syndrome with Glatiramer Acetate (Copaxone)”.
Principal Investigator:
Aleksandra Djukic M.D. PhD, Associate professor of Neurology and Pediatrics, Director, Tri State Rett Syndrome Center, The Saul R. Korey Department of Neurology
Researchers at the Rett Center at Montefiore have begun 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.
The trial, now enrolling patients, marks the beginning of a trend toward drug treatments seeking to modify the underlying mechanisms of neurological dysfunction in Rett syndrome, rather than just treat symptoms such as seizure, sleep disruption or anxiety. Research published in 2007 demonstrated that severe symptoms in animal models of Rett syndrome can be reversed, even in advanced stages of disease.
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.
Eligible patients:
The 6 month pilot study will include girls with genetically confirmed Rett syndrome, who are 10 years or older and ambulatory.
Exclusion criteria: Prolonged Qtc (obtained within 30 days prior to enrollment); Presence of co morbid non-Rett related disease; Presence of immunodeficiency requiring IVIG 3 months prior to enrollment; Allergy/sensitivity to GA or mannitol.
Funding:
The clinical trial is funded by the Rett Syndrome Research Trust.
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