Families of children and adults with MECP2 duplication syndrome should register with the Rett Consortium studying Rett Syndrome, MECP2 Duplication Syndrome, and Rett-Related Disorders. Registration is quick and easy… and you can REGISTER ON-LINE HERE.
More details are also available on that page, but here are some good reasons to register for this project:
- Signing up with the contact registry ensures that you will be kept informed of the latest developments.
- By participating in research that can help all affected children, families support research efforts that have the potential to help us all.
- Signing up for the contact registry does not obligate families to visit the research sites or participate in studies, you can determine whether or how you want to participate later,
- Registering with the project lets the researchers know that families care about their efforts and that research on individuals with MECP2 Duplication Syndrome is possible in spite of the small number of affected individuals.
- Registering helps researchers recognize where potential research participants are located and may make possible participation at new locations in the future.
Some very encouraging news. Researchers at at New York University’s Langone Medical Center have reported results from clinical trials of Epidiolex, a pharmaceutical preparartion of CBD Cannabidiol. The study was structured to determine if the medication was safe, not to measure effectiveness as a an anticonvulsant. Nevertheless, 80% of the participants in the study decreases in seizure activity and on average. The average result for participants was a 54% reduction in seizures after 12 weeks of treatment. Additional clinical trials are still in progress. Continue reading
About two and half years ago, back in May 2013, this blog reported that an experimental drug NNZ-2566 might be useful for protecting the brains of individuals with MECP2 duplication syndrome. Now there has been encouraging news from clinical trials using this drug with individuals with Rett syndrome.
In 2013, there was more encouraging news suggesting that soldiers who sustained head injuries might have fewer lasting symptoms of traumatic brain injury. Continue reading
A pre-publication manuscript of a recent study provides some more information on seizure disorders in MECP2 Duplication syndrome.
This research is very consistent with the parent survey results previously reported on this blog site on March 27, 2012. However, the study also includes information on brain electrical activity. Unfortunately, it suggests that seizures in individuals with MECP2 Duplication Syndrome are associated with different patterns of electrical activity in different individuals, which may mean no single approach to treatment is likely to be successful for all individuals with the syndrome. Continue reading
While there has been a lot of popular discussion of treating seizures with Cannabidiol, there have been few published studies of the results in children with seizure disorders. A study published in December 2013 in the journal Epilepsy and Behavior provides some encouraging information. While the study only surveyed a small number of participants and depended on parent perceptions rather than objectively measured data, the results were positive. Continue reading
Earlier this year a brief article was published on regression in MECP2 Duplication Syndrome in the Journal of Autism and Developmental Disorders.
Peters, S.U., Hundley, R.J., Wilson, A.K., Carvalho, C.M.B., Lupski, J.R., & Ramocki, M.B. (2013). Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome. Journal of Autism and Developmental Disorders, Published online, 2 March 2013. Continue reading
RETT Syndrome Conference
26 -29 June 2014
Washington, DC, USA
Many families of individuals with MECP2 Duplication Syndrome have received a poll from Pam Albert regarding the possibility of having a MECP2 Duplication Syndrome Conference in conjunction with the Rett Syndrome Conference in June of 2014. If you did not receive this survey and would consider attending such a conference, please fill out the following survey. We need your input to determine if we can make this work.
Please respond to this poll below only if you have not already responded to the poll by e-mail. Continue reading
Systemic lupus erythematosus (SLE) is an autoimmune disease that most frequently affects women between the ages of 15 and 35 but can affect both males and females of any age. It can be severe and life-threatening with periods of acute illness and remission.
Recent studies have suggested that the MECP2 gene the neighboring IRAK1 gene play a role in Lupus Continue reading
Well, I can’t really call this a theory or even a hypothesis… It is, however, a thought.
Clearly, some individuals with MECP2 Duplications are more severely affected than others and we really don’t know why. We do know a few things: Continue reading
Those of you who were at the Houston Conference heard exciting news about the development of an international database on MECP2 Duplications. Whether or not you were in Houston for the conference, this is an opportunity to participate in an exciting project. Registering your child in the database is something that you can do to help move research along. It’s free, easy, and you can do it right now. The sooner we get our boys and girls registered, the faster the project will move toward benefiting our loved ones.
To get started you can go to Go to interrett.org.au