Scientists have investigated the use of an experimental cancer drug for the treatment of the rare Rett syndrome, finding that it extended life in animal models.
In a mouse model, scientists have found that an experimental cancer drug extended the life of mice with Rett syndrome. The discovery could pave the way for additional research on potential new therapies for Rett syndrome.
Using an experimental cancer drug
Rett syndrome is very rare and predominantly affects females, with one in every 10,000 to 15,000 girls aged six to 18 months living with the disorder, and there are currently no effective treatments. It affects all aspects of development and causes problems such as seizures, loss of speech, loss of muscle tone, involuntary hand movements, scoliosis and more.
The researchers, led by senior author In-Hyun Park, associate professor of genetics, and a researcher at Yale’s Child Study Center and Stem Cell Center, investigated how a mutation in a gene named MECP-2 causes the severe disruption to neuronal functions in the cortex of Rett syndrome patients. To do this, the team created a human brain organoid containing this mutation from embryonic stem cells and found severe abnormalities in multiple brain cells.
By screening a variety of compounds, they found that a drug named JQ1, which has been investigated in several trials as a treatment for cancer, was successful in correcting abnormalities found in interneurons of the Rett syndrome model. When the drug was tested in the mouse model the researchers found the mice lived twice as long as those not receiving the drug.
According to the researchers, the JQ1 drug also restores cellular functions in neurons in human models of Rett syndrome.