Rett Syndrome Association of MA joins Rettsyndrome.org to explore treatment option

August 06, 2014

Cincinnati, (OH) - Rett Syndrome Association of Massachusetts (RSAM) and Rettsyndrome.org are thrilled to announce today their renewed commitment to work together to defeat Rett syndrome. A generous $150,000 donation from RSAM will support a Rettsyndrome.org approved grant to Dr. Michela Fagiolini's project at the Boston Children's Hospital: "Assessing NMDA receptor (NMDAr) modulators to ameliorate cortical regression in Rett syndrome".

Rajat Shah, Rettsyndrome.org Chairman of the Board, commented, "Rett Syndrome Association of Massachusetts has been a strong partner of Rettsyndrome.org for many years now. We are grateful and honored to grow our partnership in this significant way and take our collaboration to the next level. It will allow us to be more effective in reaching our common goal, developing treatments for our children, faster."

The Fagiolini laboratory at Boston Children's Hospital will conduct a preclinical study in a Rett mouse model, testing two very promising modulators of the NMDA (N-methyl-D-aspartate) receptor. These receptors are important for learning and memory and are somewhat impaired in Rett syndrome. The study will target the NMDA receptor with two different drugs, FDA approved ketamine and a new inhibitor of the NMDA receptor GLYX-13. They will evaluate the safety, pharmacokinetic activity, and efficacy of each drug. If the drugs are deemed safe and efficacious as positive and robust outcomes in the preclinical study, they will ready a potential clinical trial design with the goal of moving the compounds quickly to human clinical studies and evaluate these NMDA receptor modulators as potential treatments in girls diagnosed with Rett syndrome.

Jane Joyce, on behalf of RSAM, said, "We are incredibly grateful to the RSAM 2014 Boston Marathon Team Rett runners. Not only did the runners endure months of training in preparation for the marathon, but they committed to raising significant funds for Rett syndrome research. Our team of 26 runners, which included parents, aunts, cousins and friends of girls with Rett syndrome, went above and beyond this year. We are so thankful for their dedication and support. RSAM is pleased to be able to fully-fund Dr. Fagiolini's promising line of science and to continue our relationship with Rettsyndrome.org. "
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About Rett Syndrome Association of Massachusetts


Rett Syndrome Association of Massachusetts, Inc. (RSAM) is a non-profit organization that was founded by parents at a time when little was known about the disorder. Its mission, from its inception, has been to provide support and information to families; raise funds to accelerate biomedical research; and to raise public awareness among medical and educational communities. To learn more about RSAM and Rett syndrome, visit http://www.rettsyndromemass.org.

About Rettsyndrome.org

Rettsyndrome.org (previously known as the International Rett Syndrome Foundation, IRSF) is the world's leading private funder of basic, translational and clinical Rett syndrome research, funding over $33M in high-quality, peer-reviewed research grants and programs to date. Annually, Rettsyndrome.org hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. Rettsyndrome.org is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. Rettsyndrome.org has earned Charity Navigator's most prestigious 4 star rating 6 years in a row. To learn more, visit http://www.rettsyndrome.org or call 1-800-818-RETT (7388).

About Rett syndrome (RTT)

Rett syndrome is a rare genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of child's life: their ability to speak, walk, eat, and even breathe. The hallmark of Rett syndrome is near constant repetitive hand movements. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions. To learn more about Rettsyndrome.org and Rett syndrome, visit http://www.rettsyndrome.org or call 1-800-818-RETT (7388).

Contacts:


Shannon Starkey-Taylor, Chief Operating Officer, Rettsyndrome.org
sstarkeytaylor@rettsyndrome.org

Jane Joyce, on behalf of Rett Syndrome Association of Massachusetts
617-909-0322; jane.joyce@comcast.net

International Rett Syndrome Foundation

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