Small Molecule Drug Offers Hope for Rett Syndrome Patients

Recent research has found new discoveries for those with neurodevelopmental disorders like Rett Syndrome.

These new findings offer hope that those with mental disabilities like autism do not necessarily have to endure the same symptoms their entire life, offering a more promising future for patients and caregivers.

About one in 10,000 female infants worldwide will develop Rett syndrome.
These infants first develop symptoms within 18 months old and their intellectual disabilities include autism, problems with motor control and sensing, breathing problems, and epilepsy. Rett syndrome is caused by a loss of function mutation in a gene for a transcriptional regulator called MeCP2.

In recent studies, a brain drug has successfully improved the brain function in mice who have Rett Syndrome. The brain penetrant drug is a small-molecule mimetic of BDNF, or brain derived neurotrophic factor. In the study, the most improved function of the treated mice were object location memory and learning. Pozzo-Miller, a doctor and researcher of the University of Alabama, did this research and came to the realization that even neurological disorders that have affected early brain development may be receptive to treatment.

The specific study found that mice with Rett syndrome, who had one MeCP2 gene and were systematically treated for four weeks with this small molecule drug, had improved ability to notice that an object had moved in a location memory test. These mice also traveled a longer distance in an open field test-which demonstrates higher loco-motor activity than before being treated.

This research comes on the heels of Frank Longo, M.D., of Stanford University, who had previously done research and saw that the drug also improved breathing issues in the mice with Rett syndrome.

This research has a long way to go but collectively, it may still be a promising start for future advancements for those with intellectual disabilities like Rett Syndrome. While once it was thought that early brain development that caused neurological developmental disorders was untreatable, there is now hope.

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