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Rare Diseases And Foundations: Gene Therapy Developments #7

September 4, 2013

This is the seventh in a series of Blog Posts on the topic of recent gene therapy developments in the rare disease space. This blog post discusses patient families forming a foundation and the success of the foundation in leading the way for funding gene therapy research.

Rett Syndrome (RTT) is a postnatal neurological disorder that is first recognized in infancy and almost exclusively affects females. RTT is a rare disease that is often misdiagnosed as cerebral palsy or autism. RTT is caused by mutations on the X chromosome, on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. RTT occurs worldwide in 1 of every 10,000-23,000 female births. It causes problems with brain functions that are responsible for cognitive, sensory, emotional, motor, and autonomic function.

A group of parents, with children with RTT, establishes the nonprofit organization, Rett Syndrome Research Trust (RSRT), devoted exclusively to global research on RTT and related MECP2 disorders. Per the RSRT website, the organization :

  1. Commits $14 million to research
  2. 97% of funds are spent on research.

What is important to note here, is that RSRT is another example of a rare disease patient advocacy organization that is driving and guiding research and clinical trials for a rare disease.

RSRT supplies the financial support through the MECP2 Consortium, with support from other parents’ organizations worldwide, for a recently published study on gene therapy in RTT mice. The online article, published on August 21, 2013, in the Journal of Neuroscience, describes the success of a gene therapy study in mice for Rett Syndrome.  

The study in the Journal of Neuroscience, is led by Gail Mandel, a molecular biologist at the Oregon Health and Sciences University. Dr. Mandel’s research team is the first to show the reversal of RTT symptoms in fully symptomatic mice using gene therapy techniques. Dr. Mandel uses Adeno-Associated Virus Serotype 9 (AAV9,) which allows the virus along with the MECP2 gene’s most important segments to be administered intravenously into the RTT mice. The virus makes its way to cells throughout the body and brain, distributing the modified MECP2 gene, which then starts to produce the MECP2 protein. According to a article :

“In humans and mice with Rett Syndrome, about 50% of the cells have a healthy copoy of MECP2. After the mice were treated with the gene therapy, 65% of their cells contained a functioning MECP2 gene.”

Safety studies and other key steps need to be completed before this gene therapy is ready for clinical trials with human volunteers.


International Rett Syndrome Foundation (IRSF)   

Rett Syndrome Research Trust

Please Note: “Spinning DNA” By USDA [Public domain] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

  1. dorothyextrovertic permalink

    It’s a real testament to consumer empowerment that families of children with rare diseases can create advocacy groups with the power to fund significant research. The issue is do these groups have the training necessary to pick out the most promising research? This could be an area that the pharmaceutical industry could add some value and support these new patient organizations.

    • Hi Dorothy – Thanks for visiting the Blog !! Yes, advocacy groups formed by patients & their families seem to be the trend in the last several years in the rare disease space. The issue you mention about whether the advocacy organizations have the appropriate training or background to make decisions about research is an interesting topic and also a reality. It might be an interesting article and/or topic to cover at a meeting !! Any takers !! Thanks, Ann

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