Category Archives: Studies in Progress

The Natural History Study

strFamilies 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:

  1. Signing up with the contact registry ensures that you will be kept informed of the latest developments.
  2. By participating in research that can help all affected children, families support research efforts that have the potential to help us all.
  3. 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,
  4. 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.
  5. Registering helps researchers recognize where potential research participants are located and may make possible participation at new locations in the future.

Early Results of Epidiolex CBD Studies are Encouraging

CAUTION2 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

Encouraging News about NNZ-2566

CAUTION2 NEW3About 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

Getting Started with The Database

checkboxThose 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

Continue reading

More on the Berlin Clinical Course Study

A family. we have decided to take part in the Clinical Course of Patients with MECP2 Duplication Syndrome Study. There was previous post on this study back in July. We have received the survey and are working on getting filled out and returned.

This is a potentially important study that could be very helpful in leaning how to better treat infections in children and adults with MECP2 Duplication Syndrome. There are two parts to the study: (1) A survey to be filled out by a physician with access to a complete health record, and (2) submitting blood and tissue samples. Families who choose to participate can choose to take part in both of these or to take part only in the survey part. Continue reading

German Research on Pneumonia and Xq28 Duplication

Researchers at the Department of Pediatric Pulmonology and Immunology of the Charite in Berlin are currently undertaking a study of respiratory infections in individuals with MECP2 Duplication Syndrome. These researchers hope to determine the role of MECP2  and other duplicated genes in increased vulnerability. Their research is aimed at trying to determine if an extreme inflammatory response contributes to these infections and what causes these extreme inflammatory response in many individuals with MECP2 Duplication Syndrome. Continue reading

Rett Syndrome Study: Communication & Social Behavior

19 April 2012 A pilot study from Montefiore Medical Center reported in this month’s Pediatric Neurology looks at social and communicative behaviour in girls with Rett Syndrome. Early results suggest that girls with Rett syndrome may have better social and communicative skills than what is often assumed, and that they differ from many other individuals with autism because they show greater interest in social stimuli.

This study should be interesting to families of children and adults with MECP2 duplication syndrome and others interested in the syndrome for a couple of reasons. First, like Rett syndrome, MECP2 duplication syndrome has been grouped in the family of disorders that produce symptoms of autism, and many individuals with MECP2 duplication syndrome have been given an autism diagnosis. Second, many parents of children or adults with MECP2 duplication syndrome report similar findings to those now being documented in Rett syndrome. Parents typically report that they believe their children with MECP2 duplication syndrome understand much more than they can communicate to others and that they are interested in other people. Finally, this is an example of another area  of research that it would be great to see with our boys and girls. So far research into MECP2 duplication syndrome has been largely genetic and medical, and this is badly needed. Nevertheless, our boys and girls also can benefit from social, psychological, and educational research that can help to give them better lives.

The Gene Hunt and Developmental Disabilities

17 April 2012 Today’s issue of nature includes and article titled “Gene hunt is on for mental disability: Pioneering clinical genome-sequencing projects focus on patients with developmental delay.” It describes some of the relatively recent  developments in the widespread use of partial- and full-genome testing for developmental disability syndromes. According to the article:

Joining the hunt is a UK-based programme called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes [sections of DNA that are known to cause actual attributes in individuals] by the year’s end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay. A Canadian project called FORGE (finding of rare disease genes) aims to sequence children and families with 200 different disorders this year. And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

Developmental Disorders, Arrest & Reversal

Lately we have been hearing a lot about reversal experiments in mice. One might wonder, “if they can reverse Rett syndrome or Fragile X syndrome, or hopefully MECP2 duplication syndrome in mice, why the heck don’t they reverse it in my kid?” Sometimes it seems like mice must have better healthcare than people. Continue reading

Why Do We Need Two Lines of Research?

There are two important kinds of research that are needed to help individuals with MECP2 Duplication Syndrome and their families. Basic scientific research is needed to better understand the role of MECP2 and how excess MECP2 activity results in the syndrome. Clinical research is needed to relieve the symptoms of the syndrome and prolong the life of those experiencing its effects.

Of course, one might argue Continue reading