Researchers at Baylor College of Medicine and Texas Children's Hospital have been awarded over $880,000 for two grants from The International Rett Syndrome Foundation to study therapeutic options for Rett syndrome.
Currently, there is no treatment for Rett syndrome, a unique developmental disorder that is first recognized in early childhood and primarily affects girls.
Rett syndrome causes problems in brain functions that are responsible for cognitive, sensory, emotional, motor and autonomic function. People with Rett syndrome are impaired in hand use and spoken language and have problems with sensory sensations, mood, movement, breathing, cardiac function, as well as chewing, swallowing and growth.
The research awards include:
Dr. Daniel Glaze, professor of pediatrics neurology at BCM, and Dr. Jeffrey Neul, associate professor of pediatrics neurology at BCM working in the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, received at $600,000, two-year Angel Award to conduct a clinical trial on an experimental drug to see if it is safe and effective in the treatment of adult Rett syndrome patients. Glaze and Neul are co-directors of the Texas Children's Blue Bird Circle Rett Center respectively. Glaze is also director of the Texas Children's Sleep Center.
Additionally, Neul, the Petrello Scholar at the NRI, and his colleague Dr. N. Carolyn Schanen, of the Nemours Foundation, received a $600,000, two-year grant to study targeting a certain mutation on the MECP2 gene as a therapeutic approach to Rett syndrome. Neul will receive $286,298 of this award to conduct research at the NRI. Rett syndrome is caused by mutations in the MECP2 gene located on the X chromosome. Approximately one-third of Rett syndrome patients have nonsense mutations in the MECP2 gene, which prevent the formation of a complete protein. In animal studies, Neul will look at drugs that target these types of mutations and allow the complete protein to be made as a treatment for the disorder.
In this wave of funding, The International Rett Syndrome Foundation awarded a total of $1.3 million to support new grant funding for translational research ranging from clinical studies and developing outcome measures to preclinical studies of new compounds in mouse models of Rett syndrome.