This week the New England Journal of Medicine published a double-blind study on the effectiveness of Cannabidiol (CBD) on seizures demonstrating that it was safe and effective for kids whose seizures could not be effectively controlled with typical anticonvulsants. The publication of the study set off a media storm with the results reported in hundreds of newspapers and on electronic media. The actual study focused on individuals with a Dravet syndrome diagnosis and so it is difficult to know how well it can be applied to individuals with MECP2 duplication. Nevertheless, there are some interesting findings and likely impacts with potential implications. Continue reading
After my last post, I heard from quite a few people asking how they could find MECP2 Duplication Syndrome research articles and some wanted to more specifically know how to find articles from specific countries. PubMed is a great tool for finding this kind of information and it is available for free to everyone thanks to the the United States National Library of Medicine, National Institutes of Health. For those interested in finding research articles who are not already using PubMed or other similar tools, here is some basic information to help get you started.
A good place to start is this PubMed web Page. This provides a search window and and lots of helpful hints and tutorials that can help you use this database to find the information you are looking for.
If you want to become an expert or if you get stuck, you can watch some of the tutorials, but most people can find what they are looking for if they dive right in and do some searching. So here is an example.
At the top of the page the search window looks like this.
Here is some good news! More and more researchers from around the world are doing research that focuses on MECP2 duplication. Here is a quick snapshot of 30 recent studies published in 2016 or early 2017 that shows where the research is being conducted.
This shows that increasingly MECP2 duplication syndrome is being studied in countries around the world. While the United States and China account for half of these studies, 11 other countries are contributing to the research efforts.
Posted in Research
Research published in December 2016 provides a bit more information about seizure disorders in MECP2 duplication syndrome, particularly as they compare to seizure disorders in Rett syndrome. In general, this is a great piece of research as it describes the course of seizure disorders in Rett syndrome over a period of years. It emerged from the earlier natural history study. Unfortunately from the the perspective of MECP2 duplication syndrome, this publication is a bit disappointing, not because of any weakness in the sturdy or the reporting, but merely because the number of participants with MECP2 duplication and the number of observations in the study was relatively small, which only permitted a very limited picture of this group. If there is a lesson for the MECP2 duplication syndrome study to be learned from this study, it may be the importance of participation in the current natural history study in order for researchers to be able to glean useful information.
Nevertheless this study did briefly report some general observations relevant to MECP2 duplication syndrome:
The following is a message from Dr. Sarika Peters at Vanderbilt University:
We at Vanderbilt University Medical Center are conducting a study of the clinical, immune, and stress markers of disease progression in MECP2 Duplication Syndrome. This study is essential for us in order to establish biomarkers of disease progression, as well as potential clinical endpoints for treatment trials.
Both boys and girls are being included in this study. At this time, we are including children between the ages of 3-18 years. We will be asking you to gather blood and saliva samples from your child, and then will be asking some questions related to their overall functioning, regression, seizures, and illnesses. We will follow-up with you once per year for a total of three years.
Although this study does not require an in person visit, if your child has participated in the natural history study, we do request your permission to have access to their clinical information.
At this time, I unfortunately do not have funds to pay for international shipments of samples.
For more information if you are interested, please email: firstname.lastname@example.org
Posted in Research
Researchers at Harvard University are suggesting a new theory of autism. They are raising the possibility that atypical neurological responses to touch can play an important role in developing symptoms of autism, and suggesting that abnormal levels of MeCP2 levels in cells that respond to touch can be critical to the development of symptoms of autism.
Experiments with a number of types of genetically engineered laboratory mice, they found autistic-like behavior developed in those without MECP2 activity in touch cells, but not if normal activity was present in touch cells but not in other cells in the body. There are a number of cautions in interpreting this finding and the associated theory, but there are also a number of general observations that make this theory enticing. Continue reading
This is a reminder about the upcoming conference on MECP2 related disorders in June. This event is really two conferences in one: (1) A family conference for those whose family members are affected by Rett syndrome, MECP2 duplication syndrome, FOXG1 syndrome, CDKL5 disorder, or other MECP2 related syndromes., and (2) a concurrent professional and research symposium on the same disorders. The conference will take place at the Eaglewood Resort in Illinois, June 22-24, 2016.
A recent study looks at the effects of the MeCP2 protein levels on adult brains. Although this study looked at blocking MeCP2 [similar to Rett syndrome and the opposite of MECP2 duplication syndrome], the fact that it showed different kinds of responses depending on the developmental maturity of the lab mice, suggests that the most critical role of the MeCP2 protein may be in the function of the adult brain.
This finding is consistent with Continue reading
Several new studies provide encouraging results about the use of cannabidiol (CBD) oil to treat seizure disorders that are not controlled by other medications. Research also, however, points toward important cautions.
Already in 2016,at least nine studies have been published on CBD and seizures. Two 2016 studies, one from Israel (Tzadok et al.,, 2016) and one the United States (Devinsky et al., 2016) are generally reporting particularly encouraging results. This is not to say the others are negative, just less relevant. The two discussed here are important because they include some results Continue reading